T493I (p.Thr493Ile) variant of F11 (Coagulation factor XI)
T493I (p.Thr493Ile) 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.
T493I (p.Thr493Ile) variant details
- p.Thr493Ile
- rs1554083754
- ClinGen CA358943731
- ClinVar RCV000666697
- UniProt VAR 012095
- Likely pathogenic
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- AlphaMissense 0.15
- MetaLR 0.87
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.39
- ClinVar: Likely pathogenic (Hereditary factor XI deficiency disease)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Heterozygous factor XI deficiency associated with three novel mutations. (PMID 10606881)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)