D13G (p.Asp13Gly) variant of ATP6V1A (P38606)
D13G (p.Asp13Gly) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D13G (p.Asp13Gly) variant details
- p.Asp13Gly
- gnomAD 3-113778791-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.33
- CADD 25.50
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available