E141K (p.Glu141Lys) variant of ATP6V0A4 (Q9HBG4)
E141K (p.Glu141Lys) 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 0.56 / 1. The record also includes structural context.
E141K (p.Glu141Lys) variant details
- p.Glu141Lys
- rs867752659
- Ensembl rs867752659
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- ESM-1b 1.00
- AlphaMissense 0.29
- MetaLR 0.53
- MetaSVM -0.27
- PolyPhen-2 0.02
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available