S2R (p.Ser2Arg) variant of FGG (Fibrinogen gamma chain)
S2R (p.Ser2Arg) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- 1000Genomes rs201346883
- ExAC rs201346883
- gnomAD rs201346883
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0919
- REVEL 0.04
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available