E58D (p.Glu58Asp) variant of ATP6V1A (P38606)
E58D (p.Glu58Asp) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E58D (p.Glu58Asp) variant details
- p.Glu58Asp
- TOPMed rs1315496967
- gnomAD rs1315496967
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.39
- CADD 16.00
- PolyPhen-2 0.04
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available