T150K (p.Thr150Lys) variant of F11 (Coagulation factor XI)
T150K (p.Thr150Lys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
T150K (p.Thr150Lys) variant details
- p.Thr150Lys
- rs1340928778
- TOPMed rs1340928778
- gnomAD rs1340928778
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.89
- MetaSVM 0.97
- CADD 23.80
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available