Rare, tentatively evaluated as benign. Polyphen 2 predicts damaging effect, but this is variant found in a healthy male PGP participant.
Polyphen 2 predicts damaging effect
Present in an unaffected male PGP participant
Low clinical importance, Uncertain benign
(The "low clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Other variants in this gene are associated with diseases (Joubert syndrome and Oral-Facial-Digital Syndrome), but predicted effects are inconsistent with the presence of this variant in a healthy male PGP participant.
huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chrX:13776547