C51G (p.Cys51Gly) variant of OCA2 (P protein)
C51G (p.Cys51Gly) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
C51G (p.Cys51Gly) variant details
- p.Cys51Gly
- TOPMed rs1423303674
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.52
- MetaSVM -0.51
- CADD 1.56
- Structural context available