G775S (p.Gly775Ser) variant of OCA2 (P protein)
G775S (p.Gly775Ser) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; not provided; OCA2-related diso. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G775S (p.Gly775Ser) variant details
- p.Gly775Ser
- rs774822330
- ClinGen CA7438636
- cosmic curated COSV62344
- ClinVar RCV003058451
- Pathogenic/Likely pathogenic
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; not provided; OCA2-related diso
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.70
- MetaLR 0.79
- MetaSVM 0.78
- CADD 26.30
- ClinVar: Pathogenic/Likely pathogenic (SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; not provided; O)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available