Q135H (p.Gln135His) variant of ATP6V0A4 (Q9HBG4)
Q135H (p.Gln135His) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q135H (p.Gln135His) variant details
- p.Gln135His
- ExAC rs760777799
- TOPMed rs760777799
- gnomAD rs760777799
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.43
- ESM-1b 0.50
- AlphaMissense 0.34
- MetaLR 0.50
- MetaSVM -0.29
- CADD 16.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00051)
- Structural context available