G116E (p.Gly116Glu) variant of F5 (Coagulation factor V)
G116E (p.Gly116Glu) in F5 (Coagulation factor V) 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 0.89 / 1. The record also includes population frequency data and structural context.
G116E (p.Gly116Glu) variant details
- p.Gly116Glu
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10088
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.97
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available