E12D (p.Glu12Asp) variant of ATP6V1A (P38606)
E12D (p.Glu12Asp) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- gnomAD 3-113778789-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.34
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available