G27R (p.Gly27Arg) variant of OCA2 (P protein)
G27R (p.Gly27Arg) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- rs61738394
- UniProt VAR 006117
- 1000Genomes rs61738394
- ESP rs61738394
- Conflicting interpretations
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-positive oculocutane
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.34
- MetaSVM -0.27
- CADD 5.97
- ClinVar: Conflicting classifications of pathogenicity (SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-posi)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). (PMID 9259203)
- Cited in: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. (PMID 10094567)