V55F (p.Val55Phe) variant of ATP6V0A4 (Q9HBG4)
V55F (p.Val55Phe) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
V55F (p.Val55Phe) variant details
- p.Val55Phe
- cosmic curated COSV10882
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.86
- MetaSVM 0.93
- CADD 26.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available