T116I (p.Thr116Ile) variant of F13A1 (Coagulation factor XIII A chain)
T116I (p.Thr116Ile) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
T116I (p.Thr116Ile) variant details
- p.Thr116Ile
- ExAC rs771763854
- TOPMed rs771763854
- gnomAD rs771763854
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.94
- MetaLR 0.86
- MetaSVM 0.90
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available