R117Q (p.Arg117Gln) variant of VPS13C (Q709C8)
R117Q (p.Arg117Gln) in VPS13C (Q709C8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R117Q (p.Arg117Gln) variant details
- p.Arg117Gln
- rs756534061
- ClinGen CA7597582
- NCI-TCGA Cosmic COSV5142
- cosmic curated COSV51422
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.62
- MetaSVM 0.24
- CADD 31.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available