G43S (p.Gly43Ser) variant of OCA2 (P protein)
G43S (p.Gly43Ser) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G43S (p.Gly43Ser) variant details
- p.Gly43Ser
- cosmic curated COSV62349
- 1000Genomes rs545820701
- ExAC rs545820701
- TOPMed rs545820701
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.53
- MetaSVM -0.43
- CADD 0.02
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available