T141K (p.Thr141Lys) variant of F11 (Coagulation factor XI)
T141K (p.Thr141Lys) in F11 (Coagulation factor XI) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
T141K (p.Thr141Lys) variant details
- p.Thr141Lys
- 1000Genomes rs200593979
- ESP rs200593979
- ExAC rs200593979
- TOPMed rs200593979
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.65
- MetaLR 0.87
- MetaSVM 0.92
- CADD 23.60
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available