D356G (p.Asp356Gly) variant of FGG (Fibrinogen gamma chain)
D356G (p.Asp356Gly) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial dysfibrinogenemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
D356G (p.Asp356Gly) variant details
- p.Asp356Gly
- rs121913094
- ClinGen CA358535659
- ClinVar RCV003444468
- Likely pathogenic
- Familial dysfibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.96
- AlphaMissense 0.98
- MetaLR 0.87
- MetaSVM 0.89
- CADD 32.00
- PolyPhen-2 0.38
- ClinVar: Likely pathogenic (Familial dysfibrinogenemia)
- EBI: Likely pathogenic (in Kyoto-3)
- UniProt: Likely pathogenic (in Kyoto-3)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available