R38S (p.Arg38Ser) variant of FGA (Fibrinogen alpha chain)
R38S (p.Arg38Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature.
R38S (p.Arg38Ser) variant details
- p.Arg38Ser
- rs1403508334
- ClinGen CA358533872
- ClinVar RCV000017842
- ClinVar RCV006277649
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.93
- MetaLR 0.51
- MetaSVM -0.18
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.77
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in Detroit-1)
- UniProt: Likely pathogenic (in Detroit-1)
- Cited in: Molecular defects and variants of fibrinogen. (PMID 4250289)
- Cited in: Fibrinogen Detroit--a molecular defect in the N-terminal disulphide knot of human fibrinogen? (PMID 5645286)