R38G (p.Arg38Gly) variant of FGA (Fibrinogen alpha chain)
R38G (p.Arg38Gly) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hypofibrinogenemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- rs121909608
- ClinGen CA126469
- ClinVar RCV000017843
- ClinVar RCV000851993
- Likely pathogenic
- not provided; Hypofibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.59
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Hypofibrinogenemia)
- EBI: Pathogenic (in Aarhus-1)
- UniProt: Pathogenic (in Aarhus-1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)