T75K (p.Thr75Lys) variant of F13B (Coagulation factor XIII B chain)
T75K (p.Thr75Lys) in F13B (Coagulation factor XIII B 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 0.17 / 1. The record also includes population frequency data and structural context.
T75K (p.Thr75Lys) variant details
- p.Thr75Lys
- TOPMed rs915458369
- gnomAD rs915458369
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.23
- CADD 3.79
- PolyPhen-2 0.18
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available