A33S (p.Ala33Ser) variant of OCA2 (P protein)
A33S (p.Ala33Ser) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A33S (p.Ala33Ser) variant details
- p.Ala33Ser
- ExAC rs748244078
- gnomAD rs748244078
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.42
- MetaSVM -0.42
- CADD 0.01
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available