A43T (p.Ala43Thr) variant of F11 (Coagulation factor XI)
A43T (p.Ala43Thr) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- rs281875264
- ClinGen CA219104
- ClinVar RCV000059006
- ClinVar RCV004799774
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- AlphaMissense 0.11
- MetaLR 0.77
- MetaSVM 0.12
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.20
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Three dominant-negative mutations in factor XI-deficient patients. (PMID 21457405)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)