R35H (p.Arg35His) variant of FGA (Fibrinogen alpha chain)
R35H (p.Arg35His) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypofibrinogenemia; Abnormal bleeding; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and published literature.
R35H (p.Arg35His) variant details
- p.Arg35His
- rs121909607
- ClinGen CA130224
- cosmic curated COSV57397
- ClinVar RCV000030941
- Pathogenic
- Hypofibrinogenemia; Abnormal bleeding; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.36
- AlphaMissense 0.87
- MetaLR 0.60
- MetaSVM 0.26
- CADD 28.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Hypofibrinogenemia; Abnormal bleeding; not provided)
- EBI: Pathogenic (in dbSNP:rs121909607)
- UniProt: Pathogenic (in dbSNP:rs121909607)
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Cited in: Fibrinogen Stony Brook, a heterozygous A alpha 16Arg----Cys dysfibrinogenemia. Evaluation of diminished platelet… (PMID 2738154)
- Cited in: Fibrinogen Birmingham: a heterozygous dysfibrinogenemia (A alpha 16 Arg----His) containing heterodimeric molecules. (PMID 3345340)