C178R (p.Cys178Arg) variant of FAS (P25445)
C178R (p.Cys178Arg) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
C178R (p.Cys178Arg) variant details
- p.Cys178Arg
- rs121913084
- ClinGen CA126598
- ClinVar RCV000017976
- UniProt VAR 018322
- Pathogenic
- SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- AlphaMissense 0.52
- MetaLR 0.61
- MetaSVM -0.05
- PolyPhen-2 0.88
- SIFT 0.18
- MutPred 0.55
- ClinVar: Pathogenic (SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC)
- EBI: Pathogenic (in squamous cell carcinoma)
- UniProt: Pathogenic (in squamous cell carcinoma)
- Structural context available
- Cited in: Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell carcinoma arising from a burn scar. (PMID 10620127)