E67K (p.Glu67Lys) variant of OCA2 (P protein)
E67K (p.Glu67Lys) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes structural context.
E67K (p.Glu67Lys) variant details
- p.Glu67Lys
- Ensembl rs2044628178
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.58
- MetaSVM -0.35
- CADD 13.28
- Structural context available