I64M (p.Ile64Met) variant of ATP6V0A4 (Q9HBG4)
I64M (p.Ile64Met) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
I64M (p.Ile64Met) variant details
- p.Ile64Met
- ExAC rs758117225
- gnomAD rs758117225
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.48
- ESM-1b 0.27
- AlphaMissense 0.17
- MetaLR 0.67
- MetaSVM 0.47
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available