E24G (p.Glu24Gly) variant of F12 (Coagulation factor XII)
E24G (p.Glu24Gly) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of F12-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E24G (p.Glu24Gly) variant details
- p.Glu24Gly
- rs2481048012
- ClinGen CA362335109
- ClinVar RCV004555653
- Uncertain significance
- F12-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.27
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (F12-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available