A55D (p.Ala55Asp) variant of OCA2 (P protein)
A55D (p.Ala55Asp) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A55D (p.Ala55Asp) variant details
- p.Ala55Asp
- Ensembl rs1566878242
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.78
- MetaSVM 0.25
- CADD 11.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available