T49M (p.Thr49Met) variant of F13A1 (Coagulation factor XIII A chain)
T49M (p.Thr49Met) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T49M (p.Thr49Met) variant details
- p.Thr49Met
- 1000Genomes rs143616920
- ESP rs143616920
- ExAC rs143616920
- TOPMed rs143616920
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.32
- MetaLR 0.34
- MetaSVM -0.61
- CADD 5.15
- PolyPhen-2 0.04
- SIFT 0.25
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available