A42G (p.Ala42Gly) variant of OCA2 (P protein)
A42G (p.Ala42Gly) 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.
A42G (p.Ala42Gly) variant details
- p.Ala42Gly
- gnomAD rs867371205
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.39
- MetaSVM -0.59
- CADD 0.08
- Structural context available