G116S (p.Gly116Ser) variant of F12 (Coagulation factor XII)
G116S (p.Gly116Ser) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G116S (p.Gly116Ser) variant details
- p.Gly116Ser
- rs754877167
- ClinGen CA3581519
- ClinVar RCV001931006
- ExAC rs754877167
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.34
- CADD 11.10
- PolyPhen-2 0.43
- SIFT 0.47
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available