A29D (p.Ala29Asp) variant of OCA2 (P protein)
A29D (p.Ala29Asp) 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.
A29D (p.Ala29Asp) variant details
- p.Ala29Asp
- ExAC rs776260039
- gnomAD rs776260039
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.50
- MetaSVM -0.43
- CADD 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available