G57R (p.Gly57Arg) variant of OCA2 (P protein)
G57R (p.Gly57Arg) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- rs372901106
- ClinGen CA7439559
- NCI-TCGA Cosmic COSV6233
- cosmic curated COSV62356
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.71
- MetaSVM -0.22
- CADD 5.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available