R115C (p.Arg115Cys) variant of F13B (Coagulation factor XIII B chain)
R115C (p.Arg115Cys) in F13B (Coagulation factor XIII B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R115C (p.Arg115Cys) variant details
- p.Arg115Cys
- ExAC rs773706837
- gnomAD rs773706837
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.33
- CADD 21.30
- PolyPhen-2 0.72
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available