H6Q (p.His6Gln) variant of FGG (Fibrinogen gamma chain)
H6Q (p.His6Gln) in FGG (Fibrinogen gamma chain) 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 0.34 / 1. The record also includes structural context.
H6Q (p.His6Gln) variant details
- p.His6Gln
- rs756496862
- gnomAD rs756496862
- ClinGen CA358538710
- ClinVar RCV002700585
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.08
- MetaLR 0.08
- MetaSVM -1.08
- PolyPhen-2 0.01
- SIFT 0.68
- MutPred 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available