E126K (p.Glu126Lys) variant of ATP6V0A4 (Q9HBG4)
E126K (p.Glu126Lys) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
E126K (p.Glu126Lys) variant details
- p.Glu126Lys
- cosmic curated COSV10590
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- ESM-1b 1.00
- AlphaMissense 0.90
- Structural context available