C170G (p.Cys170Gly) variant of F12 (Coagulation factor XII)
C170G (p.Cys170Gly) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
C170G (p.Cys170Gly) variant details
- p.Cys170Gly
- TOPMed rs1442777543
- gnomAD rs1442777543
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.68
- CADD 25.20
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available