E597K (p.Glu597Lys) variant of F11 (Coagulation factor XI)
E597K (p.Glu597Lys) 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 not provided; Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E597K (p.Glu597Lys) variant details
- p.Glu597Lys
- rs281875251
- ClinGen CA219130
- cosmic curated COSV10635
- ClinVar RCV000059020
- Likely pathogenic
- not provided; Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- AlphaMissense 0.23
- MetaLR 0.70
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.39
- ClinVar: Likely pathogenic (not provided; Hereditary factor XI deficiency disease)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency. (PMID 16607084)
- Cited in: Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion… (PMID 22159456)