G42S (p.Gly42Ser) variant of FGG (Fibrinogen gamma chain)
G42S (p.Gly42Ser) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Congenital afibrinogenemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G42S (p.Gly42Ser) variant details
- p.Gly42Ser
- rs202132393
- ClinGen CA3115721
- cosmic curated COSV60195
- ClinVar RCV001145946
- Conflicting interpretations
- not specified; not provided; Congenital afibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.76
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Congenital afibrinogenemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.014)
- Structural context available