A56G (p.Ala56Gly) variant of OCA2 (P protein)
A56G (p.Ala56Gly) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
A56G (p.Ala56Gly) variant details
- p.Ala56Gly
- TOPMed rs867941204
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.70
- MetaSVM -0.06
- CADD 5.53
- Structural context available