A63V (p.Ala63Val) variant of F11 (Coagulation factor XI)
A63V (p.Ala63Val) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary factor XI deficiency disease. 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.
A63V (p.Ala63Val) variant details
- p.Ala63Val
- rs281875244
- ClinGen CA219136
- ClinVar RCV000059023
- ClinVar RCV000670641
- Uncertain significance
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- AlphaMissense 0.11
- MetaLR 0.45
- MetaSVM -0.38
- PolyPhen-2 0.92
- SIFT 0.01
- EVE 0.13
- ClinVar: Uncertain significance (Hereditary factor XI deficiency disease)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion… (PMID 22159456)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)