E15D (p.Glu15Asp) variant of ATP6V1A (P38606)
E15D (p.Glu15Asp) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E15D (p.Glu15Asp) variant details
- p.Glu15Asp
- TOPMed rs1197911761
- gnomAD rs1197911761
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.54
- CADD 17.50
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available