HPS4 V552M - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

HPS4 V552M

(HPS4 Val552Met)


Short summary

 

Variant evidence
Computational 1

PolyPhen2: Possibly damaging 0.996
SIFT: Affect protein function 0.00
GVGD: Class C15

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
hom T @ chr22:25189942

 

Other external references
 

    PolyPhen-2
  • Score: 0.96 (probably damaging)
    Web search results (1 hit -- see all)
  • IOVS -- Hutton and Spritz 49 (3): 868 Table 1
    TYR: S192Y (h); HPS4: E229G (H), V522M (H), H606Y (H), Q625H ... SLC45A2: L374F (h); HPS4: E229G (h), L443V (h), V552M (h), H606Y (h), Q625H (h) ...
    www.iovs.org/cgi/content-nw/full/49/3/868/T1

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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