E71K (p.Glu71Lys) variant of ATP6V0A4 (Q9HBG4)
E71K (p.Glu71Lys) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
E71K (p.Glu71Lys) variant details
- p.Glu71Lys
- cosmic curated COSV10644
- gnomAD rs1232526730
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.43
- MetaLR 0.69
- MetaSVM 0.57
- CADD 25.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available