E15Q (p.Glu15Gln) variant of ATP6V1A (P38606)
E15Q (p.Glu15Gln) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
E15Q (p.Glu15Gln) variant details
- p.Glu15Gln
- gnomAD 3-113778796-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.75
- CADD 27.50
- PolyPhen-2 0.76
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available