M336T (p.Met336Thr) variant of FGG (Fibrinogen gamma chain)
M336T (p.Met336Thr) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial dysfibrinogenemia; FGG-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
M336T (p.Met336Thr) variant details
- p.Met336Thr
- rs121913091
- ClinGen CA126399
- ClinVar RCV000017786
- ClinVar RCV001797589
- Pathogenic/Likely pathogenic
- Familial dysfibrinogenemia; FGG-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- AlphaMissense 0.88
- MetaLR 0.64
- MetaSVM 0.38
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic/Likely pathogenic (Familial dysfibrinogenemia; FGG-related disorder; not provided)
- EBI: Pathogenic (in Asahi)
- UniProt: Pathogenic (in Asahi)
- Structural context available
- Cited in: Gene analyses of abnormal fibrinogens with a mutation in the gamma chain. (PMID 1421174)
- Cited in: A gamma methionine-310 to threonine substitution and consequent N-glycosylation at gamma asparagine-308 identified in a… (PMID 2496144)