S195G (p.Ser195Gly) variant of OCA2 (P protein)
S195G (p.Ser195Gly) 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; Tyrosinase-positive oculocutane. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S195G (p.Ser195Gly) variant details
- p.Ser195Gly
- rs767092342
- ClinGen CA7439417
- ClinVar RCV000851375
- ClinVar RCV003465687
- Pathogenic/Likely pathogenic
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-positive oculocutane
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.21
- MetaSVM -0.82
- CADD 19.99
- ClinVar: Pathogenic/Likely pathogenic (SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-posi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)