E15G (p.Glu15Gly) variant of ATP6V1A (P38606)
E15G (p.Glu15Gly) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E15G (p.Glu15Gly) variant details
- p.Glu15Gly
- gnomAD 3-113778797-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.84
- CADD 27.20
- PolyPhen-2 0.62
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available