E31K (p.Glu31Lys) variant of ATP6V0A4 (Q9HBG4)
E31K (p.Glu31Lys) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- ExAC rs768085481
- TOPMed rs768085481
- gnomAD rs768085481
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.72
- ESM-1b 0.00
- AlphaMissense 0.47
- MetaLR 0.63
- MetaSVM 0.33
- CADD 23.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available