P538L (p.Pro538Leu) variant of F11 (Coagulation factor XI)
P538L (p.Pro538Leu) 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; Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P538L (p.Pro538Leu) variant details
- p.Pro538Leu
- rs139695003
- ClinGen CA199131
- ClinVar RCV000169580
- UniProt VAR 054903
- Pathogenic/Likely pathogenic
- Plasma factor XI deficiency; Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.24
- MetaLR 0.83
- MetaSVM 0.83
- PolyPhen-2 0.01
- SIFT 0.01
- EVE 0.62
- ClinVar: Pathogenic/Likely pathogenic (Plasma factor XI deficiency; Hereditary factor XI deficiency dis)
- 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)