T51I (p.Thr51Ile) variant of F11 (Coagulation factor XI)
T51I (p.Thr51Ile) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
T51I (p.Thr51Ile) variant details
- p.Thr51Ile
- rs281875252
- ClinGen CA219118
- ClinVar RCV000059013
- ClinVar RCV003447484
- Conflicting interpretations
- not specified; Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.86
- MetaSVM 0.86
- CADD 24.10
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hereditary factor XI deficiency disease)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Structural context available
- Cited in: Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients. (PMID 18005151)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)