A38D (p.Ala38Asp) variant of ATP6V1A (P38606)
A38D (p.Ala38Asp) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A38D (p.Ala38Asp) variant details
- p.Ala38Asp
- gnomAD 3-113781080-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.90
- CADD 26.50
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available