N118S (p.Asn118Ser) variant of FAS (P25445)
N118S (p.Asn118Ser) 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 0.60 / 1. The record also includes published literature and structural context.
N118S (p.Asn118Ser) variant details
- p.Asn118Ser
- rs121913083
- ClinGen CA126593
- ClinVar RCV000017975
- UniProt VAR 018321
- Pathogenic
- SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- AlphaMissense 0.12
- MetaLR 0.80
- MetaSVM 0.19
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.53
- 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)