M42V (p.Met42Val) variant of ATP6V0A4 (Q9HBG4)
M42V (p.Met42Val) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
M42V (p.Met42Val) variant details
- p.Met42Val
- Ensembl rs1807250552
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.27
- MetaSVM -0.83
- CADD 3.85
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available