G99C (p.Gly99Cys) variant of F13B (Coagulation factor XIII B chain)
G99C (p.Gly99Cys) in F13B (Coagulation factor XIII B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
G99C (p.Gly99Cys) variant details
- p.Gly99Cys
- ExAC rs767417732
- gnomAD rs767417732
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.59
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available