E45K (p.Glu45Lys) variant of F12 (Coagulation factor XII)
E45K (p.Glu45Lys) in F12 (Coagulation factor XII) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- NCI-TCGA Cosmic COSV9949
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.17
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available