G75E (p.Gly75Glu) variant of OCA2 (P protein)
G75E (p.Gly75Glu) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.28 / 1. The record also includes published literature and structural context.
G75E (p.Gly75Glu) variant details
- p.Gly75Glu
- rs2141895899
- ClinGen CA391366518
- NCI-TCGA Cosmic COSV6233
- cosmic curated COSV62339
- Uncertain significance
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-positive oculocutane
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.59
- MetaSVM -0.52
- CADD 0.44
- ClinVar: Uncertain significance (SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-posi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)