G57E (p.Gly57Glu) variant of OCA2 (P protein)
G57E (p.Gly57Glu) in OCA2 (P protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G57E (p.Gly57Glu) variant details
- p.Gly57Glu
- ExAC rs746247850
- TOPMed rs746247850
- gnomAD rs746247850
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.74
- MetaSVM -0.20
- CADD 3.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available