D91V (p.Asp91Val) variant of OCA2 (P protein)
D91V (p.Asp91Val) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D91V (p.Asp91Val) variant details
- p.Asp91Val
- cosmic curated COSV62360
- ExAC rs542571783
- TOPMed rs542571783
- gnomAD rs542571783
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.72
- MetaSVM -0.02
- CADD 20.30
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available