A69T (p.Ala69Thr) variant of OCA2 (P protein)
A69T (p.Ala69Thr) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes structural context.
A69T (p.Ala69Thr) variant details
- p.Ala69Thr
- rs2141896024
- ClinGen CA391366561
- ClinVar RCV002659162
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.57
- MetaSVM -0.29
- CADD 7.86
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available