A69P (p.Ala69Pro) variant of OCA2 (P protein)
A69P (p.Ala69Pro) in OCA2 (P protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
A69P (p.Ala69Pro) variant details
- p.Ala69Pro
- Ensembl rs2141896024
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.57
- MetaSVM -0.29
- CADD 7.86
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available