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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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 -


Insufficiently evaluated not reviewed

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

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



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


Other external references

  • 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) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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