V55I (p.Val55Ile) variant of ATP6V0A4 (Q9HBG4)
V55I (p.Val55Ile) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V55I (p.Val55Ile) variant details
- p.Val55Ile
- cosmic curated COSV10518
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.69
- MetaSVM 0.24
- CADD 23.90
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available