S116F (p.Ser116Phe) variant of VPS13C (Q709C8)
S116F (p.Ser116Phe) 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 0.33 / 1. The record also includes population frequency data and structural context.
S116F (p.Ser116Phe) variant details
- p.Ser116Phe
- rs868568260
- NCI-TCGA Cosmic COSV5131
- cosmic curated COSV51317
- gnomAD rs868568260
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.29
- ESM-1b 0.51
- AlphaMissense 0.09
- MetaLR 0.39
- MetaSVM -0.53
- CADD 18.81
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available