G116D (p.Gly116Asp) variant of F12 (Coagulation factor XII)
G116D (p.Gly116Asp) 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 0.55 / 1. The record also includes population frequency data and structural context.
G116D (p.Gly116Asp) variant details
- p.Gly116Asp
- NCI-TCGA TCGA novel
- TOPMed rs1763265692
- gnomAD rs1763265692
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.48
- CADD 22.60
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available