A108G (p.Ala108Gly) variant of FGG (Fibrinogen gamma chain)
A108G (p.Ala108Gly) 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 Thrombus; Familial dysfibrinogenemia; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A108G (p.Ala108Gly) variant details
- p.Ala108Gly
- rs148685782
- ClinGen CA3115670
- cosmic curated COSV10814
- ClinVar RCV000660564
- Conflicting interpretations
- Thrombus; Familial dysfibrinogenemia; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.46
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.33
- ClinVar: Conflicting classifications of pathogenicity (Thrombus; Familial dysfibrinogenemia; not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.026)
- Structural context available