E49V (p.Glu49Val) variant of ATP6V1A (P38606)
E49V (p.Glu49Val) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E49V (p.Glu49Val) variant details
- p.Glu49Val
- ExAC rs747631097
- gnomAD rs747631097
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.33
- CADD 23.50
- PolyPhen-2 0.22
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available