G44R (p.Gly44Arg) variant of F12 (Coagulation factor XII)
G44R (p.Gly44Arg) 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 0.66 / 1. The record also includes population frequency data and structural context.
G44R (p.Gly44Arg) variant details
- p.Gly44Arg
- NCI-TCGA Cosmic COSV9949
- ExAC rs765592197
- gnomAD rs765592197
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.61
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available