Y284C (p.Tyr284Cys) variant of F13A1 (Coagulation factor XIII A chain)
Y284C (p.Tyr284Cys) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Factor XIII, A subunit, deficiency of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
Y284C (p.Tyr284Cys) variant details
- p.Tyr284Cys
- rs121913074
- ClinGen CA126645
- ClinVar RCV000018000
- Ensembl rs121913074
- Pathogenic
- Factor XIII, A subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- AlphaMissense 0.52
- MetaLR 0.94
- MetaSVM 1.10
- SIFT 0.00
- MutPred 0.74
- ClinVar: Pathogenic (Factor XIII, A subunit, deficiency of)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Novel Y283C mutation of the A subunit for coagulation factor XIII: molecular modelling predicts its impaired protein… (PMID 11380452)