M336L (p.Met336Leu) variant of FGG (Fibrinogen gamma chain)
M336L (p.Met336Leu) 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 0.65 / 1. The record also includes population frequency data and structural context.
M336L (p.Met336Leu) variant details
- p.Met336Leu
- cosmic curated COSV60195
- gnomAD rs891964426
- Likely pathogenic
- Familial dysfibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.68
- CADD 24.30
- PolyPhen-2 0.24
- SIFT 0.03
- ClinVar: Likely pathogenic (Familial dysfibrinogenemia)
- EBI: Likely pathogenic (in Asahi)
- UniProt: Likely pathogenic (in Asahi)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available