R142W (p.Arg142Trp) variant of F12 (Coagulation factor XII)
R142W (p.Arg142Trp) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R142W (p.Arg142Trp) variant details
- p.Arg142Trp
- 1000Genomes rs555120496
- ExAC rs555120496
- TOPMed rs555120496
- gnomAD rs555120496
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.13
- CADD 24.00
- PolyPhen-2 0.82
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available