R151H (p.Arg151His) variant of VPS13C (Q709C8)
R151H (p.Arg151His) 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 0.28 / 1. The record also includes population frequency data and structural context.
R151H (p.Arg151His) variant details
- p.Arg151His
- rs150013617
- cosmic curated COSV10722
- ESP rs150013617
- ExAC rs150013617
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.08
- MetaSVM -1.01
- CADD 24.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available