E28K (p.Glu28Lys) variant of F12 (Coagulation factor XII)
E28K (p.Glu28Lys) 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 0.23 / 1. The record also includes population frequency data and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- ExAC rs754600493
- TOPMed rs754600493
- gnomAD rs754600493
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.22
- CADD 5.93
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00089)
- Structural context available