G36D (p.Gly36Asp) variant of FGA (Fibrinogen alpha chain)
G36D (p.Gly36Asp) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of FGA-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
G36D (p.Gly36Asp) variant details
- p.Gly36Asp
- rs2530830192
- ClinGen CA358533899
- ClinVar RCV004534409
- Likely pathogenic
- FGA-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.69
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (FGA-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available