E31G (p.Glu31Gly) variant of ATP6V0A4 (Q9HBG4)
E31G (p.Glu31Gly) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
E31G (p.Glu31Gly) variant details
- p.Glu31Gly
- NCI-TCGA Cosmic COSV5947
- cosmic curated COSV59474
- Ensembl rs1807362667
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.91
- ESM-1b 0.52
- AlphaMissense 0.48
- MetaLR 0.83
- MetaSVM 0.89
- CADD 27.80
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available