E59V (p.Glu59Val) variant of ATP6V0A4 (Q9HBG4)
E59V (p.Glu59Val) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
E59V (p.Glu59Val) variant details
- p.Glu59Val
- ExAC rs751987249
- gnomAD rs751987249
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.81
- MetaSVM 0.83
- CADD 33.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available