E134K (p.Glu134Lys) variant of VPS13C (Q709C8)
E134K (p.Glu134Lys) in VPS13C (Q709C8) 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 0.21 / 1. The record also includes structural context.
E134K (p.Glu134Lys) variant details
- p.Glu134Lys
- rs1567127234
- Ensembl rs1567127234
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.08
- MetaSVM -1.06
- CADD 22.80
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available