R35S (p.Arg35Ser) variant of FGA (Fibrinogen alpha chain)
R35S (p.Arg35Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
R35S (p.Arg35Ser) variant details
- p.Arg35Ser
- rs121909606
- ClinGen CA358533907
- ClinVar RCV000851968
- gnomAD rs121909606
- Pathogenic
- Hypofibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.49
- AlphaMissense 0.79
- MetaLR 0.60
- MetaSVM 0.26
- CADD 28.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Hypofibrinogenemia)
- EBI: Pathogenic (in dbSNP:rs121909607)
- UniProt: Pathogenic (in dbSNP:rs121909607)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)