T40I (p.Thr40Ile) variant of F11 (Coagulation factor XI)
T40I (p.Thr40Ile) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
T40I (p.Thr40Ile) variant details
- p.Thr40Ile
- Ensembl rs211694396
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.27
- MetaLR 0.76
- MetaSVM 0.51
- CADD 21.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available