R301H (p.Arg301His) variant of FGG (Fibrinogen gamma chain)
R301H (p.Arg301His) 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; Congenital afibrinogenemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R301H (p.Arg301His) variant details
- p.Arg301His
- rs121913088
- ClinGen CA126391
- NCI-TCGA Cosmic COSV6019
- cosmic curated COSV60196
- Pathogenic/Likely pathogenic
- Familial dysfibrinogenemia; Congenital afibrinogenemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.83
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial dysfibrinogenemia; Congenital afibrinogenemia; not prov)
- EBI: Pathogenic (in DYSFIBRIN)
- UniProt: Pathogenic (in DYSFIBRIN)
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Heterozygous abnormal fibrinogen Osaka III with the replacement of gamma arginine-275 by histidine has an apparently… (PMID 1455400)
- Cited in: Characterization of an abnormal fibrinogen Osaka V with the replacement of gamma-arginine 375 by glycine. The lack of… (PMID 1733971)