T593M (p.Thr593Met) variant of F11 (Coagulation factor XI)
T593M (p.Thr593Met) 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 not provided; Plasma factor XI deficiency; Hereditary factor XI deficiency disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
T593M (p.Thr593Met) variant details
- p.Thr593Met
- rs145906668
- ClinGen CA3164121
- ClinVar RCV000411281
- ClinVar RCV001850956
- Pathogenic/Likely pathogenic
- not provided; Plasma factor XI deficiency; Hereditary factor XI deficiency disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.83
- MetaLR 0.90
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic/Likely pathogenic (not provided; Plasma factor XI deficiency; Hereditary factor XI)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available