E69G (p.Glu69Gly) variant of ATP6V0A4 (Q9HBG4)
E69G (p.Glu69Gly) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
E69G (p.Glu69Gly) variant details
- p.Glu69Gly
- Ensembl rs2117331845
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.85
- ESM-1b 0.23
- AlphaMissense 0.09
- MetaLR 0.73
- MetaSVM 0.56
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available