R811K (p.Arg811Lys) variant of OCA2 (P protein)
R811K (p.Arg811Lys) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R811K (p.Arg811Lys) variant details
- p.Arg811Lys
- ExAC rs749961662
- gnomAD rs749961662
- Likely pathogenic
- Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.25
- MetaSVM -0.79
- CADD 24.20
- ClinVar: Likely pathogenic (Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGME)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available