R142G (p.Arg142Gly) variant of F12 (Coagulation factor XII)
R142G (p.Arg142Gly) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R142G (p.Arg142Gly) variant details
- p.Arg142Gly
- 1000Genomes rs555120496
- ExAC rs555120496
- TOPMed rs555120496
- gnomAD rs555120496
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.12
- CADD 22.70
- PolyPhen-2 0.36
- SIFT 0.02
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available