C56R (p.Cys56Arg) variant of F11 (Coagulation factor XI)
C56R (p.Cys56Arg) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Plasma factor XI deficiency; Factor XI deficiency; F11-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C56R (p.Cys56Arg) variant details
- p.Cys56Arg
- rs121965069
- ClinGen CA121763
- ClinVar RCV000012676
- ClinVar RCV000802420
- Pathogenic/Likely pathogenic
- Plasma factor XI deficiency; Factor XI deficiency; F11-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.91
- CADD 24.70
- ClinVar: Pathogenic/Likely pathogenic (Plasma factor XI deficiency; Factor XI deficiency; F11-related d)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Factor XI deficiency in the French Basque Country. (PMID 10444286)
- Cited in: Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. (PMID 11895778)