A56S (p.Ala56Ser) variant of OCA2 (P protein)
A56S (p.Ala56Ser) 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.
A56S (p.Ala56Ser) variant details
- p.Ala56Ser
- TOPMed rs1457587922
- gnomAD rs1457587922
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.68
- MetaSVM -0.18
- CADD 0.23
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available