E22K (p.Glu22Lys) variant of F13B (Coagulation factor XIII B chain)
E22K (p.Glu22Lys) in F13B (Coagulation factor XIII B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- TOPMed rs1194658526
- gnomAD rs1194658526
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.04
- CADD 33.00
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 9e-05)
- Structural context available