C61Y (p.Cys61Tyr) variant of F12 (Coagulation factor XII)
C61Y (p.Cys61Tyr) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
C61Y (p.Cys61Tyr) variant details
- p.Cys61Tyr
- ExAC rs748006160
- TOPMed rs748006160
- gnomAD rs748006160
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.73
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.6e-05)
- Structural context available