D344H (p.Asp344His) variant of FGG (Fibrinogen gamma chain)
D344H (p.Asp344His) 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 structural context.
D344H (p.Asp344His) variant details
- p.Asp344His
- rs1553965518
- ClinGen CA358535751
- ClinVar RCV003447705
- Likely pathogenic
- Familial dysfibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.93
- MetaLR 0.82
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Familial dysfibrinogenemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available