E315K (p.Glu315Lys) variant of F11 (Coagulation factor XI)
E315K (p.Glu315Lys) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E315K (p.Glu315Lys) variant details
- p.Glu315Lys
- rs281875257
- ClinGen CA219162
- cosmic curated COSV53006
- ClinVar RCV000059037
- Pathogenic/Likely pathogenic
- Plasma factor XI deficiency; not provided; Hereditary factor XI deficiency disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.07
- MetaLR 0.43
- MetaSVM -0.61
- PolyPhen-2 0.83
- SIFT 0.28
- EVE 0.07
- 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: Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency. (PMID 16607084)
- Cited in: Molecular basis and bleeding manifestations of factor XI deficiency in 11 Turkish families. (PMID 25158988)