C121S (p.Cys121Ser) variant of F12 (Coagulation factor XII)
C121S (p.Cys121Ser) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
C121S (p.Cys121Ser) variant details
- p.Cys121Ser
- ExAC rs746002981
- gnomAD rs746002981
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.89
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available