A35E (p.Ala35Glu) variant of ATP6V1A (P38606)
A35E (p.Ala35Glu) in ATP6V1A (P38606) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A35E (p.Ala35Glu) variant details
- p.Ala35Glu
- ESP rs367827756
- TOPMed rs367827756
- gnomAD rs367827756
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.42
- CADD 21.00
- PolyPhen-2 0.04
- SIFT 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available