N255D (p.Asn255Asp) variant of FAS (P25445)
N255D (p.Asn255Asp) 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 0.43 / 1. The record also includes published literature and structural context.
N255D (p.Asn255Asp) variant details
- p.Asn255Asp
- rs121913082
- ClinGen CA126589
- ClinVar RCV000017974
- UniProt VAR 018323
- Pathogenic
- SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.11
- MetaLR 0.44
- MetaSVM -0.69
- PolyPhen-2 0.05
- SIFT 0.40
- MutPred 0.47
- 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)