A37G (p.Ala37Gly) variant of ATP6V1A (P38606)
A37G (p.Ala37Gly) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A37G (p.Ala37Gly) variant details
- p.Ala37Gly
- ExAC rs764290779
- gnomAD rs764290779
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.74
- CADD 23.90
- PolyPhen-2 0.40
- SIFT 0.00
- Population evidence available
- Structural context available