K134E (p.Lys134Glu) variant of F12 (Coagulation factor XII)
K134E (p.Lys134Glu) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
K134E (p.Lys134Glu) variant details
- p.Lys134Glu
- ExAC rs567178642
- gnomAD rs567178642
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.60
- CADD 26.70
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available