G775R (p.Gly775Arg) variant of OCA2 (P protein)
G775R (p.Gly775Arg) 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 Tyrosinase-positive oculocutaneous albinism; Oculocutaneous albinism; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G775R (p.Gly775Arg) variant details
- p.Gly775Arg
- rs774822330
- ClinGen CA391359924
- cosmic curated COSV10066
- ClinVar RCV001963223
- Pathogenic/Likely pathogenic
- Tyrosinase-positive oculocutaneous albinism; Oculocutaneous albinism; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.97
- CADD 26.40
- ClinVar: Pathogenic/Likely pathogenic (Tyrosinase-positive oculocutaneous albinism; Oculocutaneous albi)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families. (PMID 17385796)
- Cited in: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. (PMID 10094567)