A45V (p.Ala45Val) variant of OCA2 (P protein)
A45V (p.Ala45Val) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- TOPMed rs2044633583
- gnomAD rs2044633583
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.71
- MetaSVM -0.28
- CADD 3.35
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available