K53E (p.Lys53Glu) variant of F13B (Coagulation factor XIII B chain)
K53E (p.Lys53Glu) in F13B (Coagulation factor XIII B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
K53E (p.Lys53Glu) variant details
- p.Lys53Glu
- 1000Genomes rs200113225
- TOPMed rs200113225
- gnomAD rs200113225
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.12
- CADD 5.12
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available