A55V (p.Ala55Val) variant of OCA2 (P protein)
A55V (p.Ala55Val) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A55V (p.Ala55Val) variant details
- p.Ala55Val
- Ensembl rs1566878242
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.75
- MetaSVM 0.10
- CADD 5.85
- Most common in the HGDP:ADYGEI population (allele frequency 0.059)
- Structural context available