E341K (p.Glu341Lys) variant of F11 (Coagulation factor XI)
E341K (p.Glu341Lys) 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; not provided; Hereditary factor XI deficiency disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E341K (p.Glu341Lys) variant details
- p.Glu341Lys
- rs281875270
- ClinGen CA219096
- NCI-TCGA Cosmic COSV5300
- cosmic curated COSV53004
- Pathogenic/Likely pathogenic
- Plasma factor XI deficiency; not provided; Hereditary factor XI deficiency disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.07
- MetaLR 0.31
- MetaSVM -0.84
- PolyPhen-2 0.01
- SIFT 0.23
- EVE 0.14
- ClinVar: Pathogenic/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: Six point mutations that cause factor XI deficiency. (PMID 7888672)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)