T322I (p.Thr322Ile) variant of F11 (Coagulation factor XI)
T322I (p.Thr322Ile) 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; not provided; Hereditary factor XI deficiency disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T322I (p.Thr322Ile) variant details
- p.Thr322Ile
- rs281875269
- ClinGen CA219168
- ClinVar RCV000059040
- ClinVar RCV003447485
- Pathogenic/Likely pathogenic
- Plasma factor XI deficiency; not provided; Hereditary factor XI deficiency disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- AlphaMissense 0.77
- MetaLR 0.83
- MetaSVM 0.83
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.58
- ClinVar: Pathogenic/Likely pathogenic (Plasma factor XI deficiency; not provided; Hereditary factor XI)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Six point mutations that cause factor XI deficiency. (PMID 7888672)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)