R301C (p.Arg301Cys) variant of FGG (Fibrinogen gamma chain)
R301C (p.Arg301Cys) 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 Autosomal dominant FGG-related disorders; Familial dysfibrinogenemia; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R301C (p.Arg301Cys) variant details
- p.Arg301Cys
- rs121913087
- ClinGen CA126388
- cosmic curated COSV60195
- ClinVar RCV000017772
- Pathogenic/Likely pathogenic
- Autosomal dominant FGG-related disorders; Familial dysfibrinogenemia; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.91
- AlphaMissense 0.73
- MetaLR 0.72
- MetaSVM 0.64
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant FGG-related disorders; Familial dysfibrinogen)
- EBI: Pathogenic (in Tochigi/Osaka-2/Milano-5/Villajoyosa)
- UniProt: Pathogenic (in Tochigi/Osaka-2/Milano-5/Villajoyosa)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Gene analyses of abnormal fibrinogens with a mutation in the gamma chain. (PMID 1421174)
- Cited in: Fibrinogen Baltimore IV: congenital dysfibrinogenemia with a gamma 275 (Arg----Cys) substitution. (PMID 2617471)