R326C (p.Arg326Cys) variant of F11 (Coagulation factor XI)
R326C (p.Arg326Cys) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Plasma factor XI deficiency; not provided; Hereditary factor XI deficiency disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R326C (p.Arg326Cys) variant details
- p.Arg326Cys
- rs28934608
- ClinGen CA121757
- cosmic curated COSV53006
- ClinVar RCV000012673
- Likely pathogenic
- Plasma factor XI deficiency; not provided; Hereditary factor XI deficiency disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- AlphaMissense 0.40
- MetaLR 0.76
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Likely pathogenic (Plasma factor XI deficiency; not provided; Hereditary factor XI)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Heterozygous factor XI deficiency associated with three novel mutations. (PMID 10606881)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)