E139Q (p.Glu139Gln) variant of ATP6V0A4 (Q9HBG4)
E139Q (p.Glu139Gln) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
E139Q (p.Glu139Gln) variant details
- p.Glu139Gln
- cosmic curated COSV59477
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.50
- MetaSVM -0.16
- SIFT 1.00
- Structural context available