E521K (p.Glu521Lys) variant of F12 (Coagulation factor XII)
E521K (p.Glu521Lys) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Factor XII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E521K (p.Glu521Lys) variant details
- p.Glu521Lys
- 1000Genomes rs201946800
- ExAC rs201946800
- gnomAD rs201946800
- Likely pathogenic
- Factor XII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.58
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Factor XII deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available