R811S (p.Arg811Ser) variant of OCA2 (P protein)
R811S (p.Arg811Ser) 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 OCA2-related disorder; Tyrosinase-positive oculocutaneous albinism; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R811S (p.Arg811Ser) variant details
- p.Arg811Ser
- rs779382711
- ClinGen CA7438560
- ClinVar RCV003058449
- ClinVar RCV003128321
- Pathogenic/Likely pathogenic
- OCA2-related disorder; Tyrosinase-positive oculocutaneous albinism; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.57
- MetaLR 0.42
- MetaSVM -0.39
- CADD 15.10
- ClinVar: Pathogenic/Likely pathogenic (OCA2-related disorder; Tyrosinase-positive oculocutaneous albini)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)