C121Y (p.Cys121Tyr) variant of F12 (Coagulation factor XII)
C121Y (p.Cys121Tyr) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
C121Y (p.Cys121Tyr) variant details
- p.Cys121Tyr
- ExAC rs746002981
- gnomAD rs746002981
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.86
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available