E82K (p.Glu82Lys) variant of ATP6V0A4 (Q9HBG4)
E82K (p.Glu82Lys) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E82K (p.Glu82Lys) variant details
- p.Glu82Lys
- rs929483161
- TOPMed rs929483161
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.50
- MetaSVM -0.25
- CADD 18.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available