K101R (p.Lys101Arg) variant of F11 (Coagulation factor XI)
K101R (p.Lys101Arg) 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 Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K101R (p.Lys101Arg) variant details
- p.Lys101Arg
- rs281875272
- ClinGen CA219138
- ClinVar RCV000059024
- ClinVar RCV000667740
- Likely pathogenic
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- AlphaMissense 0.16
- MetaLR 0.87
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.40
- ClinVar: Likely pathogenic (Hereditary factor XI deficiency disease)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define… (PMID 15953011)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)