V91F (p.Val91Phe) variant of VPS13C (Q709C8)
V91F (p.Val91Phe) 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 0.79 / 1. The record also includes population frequency data and structural context.
V91F (p.Val91Phe) variant details
- p.Val91Phe
- rs1260567567
- NCI-TCGA Cosmic COSV9982
- cosmic curated COSV99827
- gnomAD rs1260567567
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.75
- MetaSVM 0.64
- CADD 27.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available