C135R (p.Cys135Arg) variant of F13B (Coagulation factor XIII B chain)
C135R (p.Cys135Arg) in F13B (Coagulation factor XIII B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
C135R (p.Cys135Arg) variant details
- p.Cys135Arg
- 1000Genomes rs199567281
- ExAC rs199567281
- gnomAD rs199567281
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.93
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available