A37E (p.Ala37Glu) variant of ATP6V1A (P38606)
A37E (p.Ala37Glu) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
A37E (p.Ala37Glu) variant details
- p.Ala37Glu
- ExAC rs764290779
- gnomAD rs764290779
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.88
- CADD 25.80
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available