R153C (p.Arg153Cys) variant of VPS13C (Q709C8)
R153C (p.Arg153Cys) in VPS13C (Q709C8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R153C (p.Arg153Cys) variant details
- p.Arg153Cys
- rs180757384
- ClinGen CA7597517
- cosmic curated COSV99827
- ClinVar RCV003079332
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.10
- ESM-1b 0.32
- AlphaMissense 0.12
- MetaLR 0.10
- MetaSVM -0.94
- CADD 33.00
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign (in dbSNP:rs12595158)
- UniProt: Likely benign (in dbSNP:rs12595158)
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available