R91W (p.Arg91Trp) variant of ATP6V0A4 (Q9HBG4)
R91W (p.Arg91Trp) 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 0.71 / 1. The record also includes population frequency data and structural context.
R91W (p.Arg91Trp) variant details
- p.Arg91Trp
- rs564427621
- NCI-TCGA Cosmic COSV5947
- cosmic curated COSV59474
- 1000Genomes rs564427621
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.47
- MetaLR 0.81
- MetaSVM 0.81
- CADD 27.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available