S50N (p.Ser50Asn) variant of F13A1 (Coagulation factor XIII A chain)
S50N (p.Ser50Asn) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The record also includes variant effect predictions and structural context.
S50N (p.Ser50Asn) variant details
- p.Ser50Asn
- TOPMed rs1377346666
- Likely benign
- Inborn genetic diseases
- Missense
- MetaLR 0.13
- MetaSVM -0.98
- SIFT 0.62
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available