I454K (p.Ile454Lys) variant of F11 (Coagulation factor XI)
I454K (p.Ile454Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
I454K (p.Ile454Lys) variant details
- p.Ile454Lys
- rs281875241
- ClinGen CA219106
- ClinVar RCV000059007
- UniProt VAR 067947
- Likely pathogenic
- Plasma factor XI deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- AlphaMissense 0.47
- MetaLR 0.08
- MetaSVM -1.01
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.49
- ClinVar: Likely pathogenic (Plasma factor XI deficiency)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Structural context available
- Cited in: A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy. (PMID 21999818)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)