R35G (p.Arg35Gly) variant of FGA (Fibrinogen alpha chain)
R35G (p.Arg35Gly) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial dysfibrinogenemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1.
R35G (p.Arg35Gly) variant details
- p.Arg35Gly
- rs121909606
- ClinGen CA358533906
- ClinVar RCV002245494
- ClinVar RCV003313800
- Uncertain significance
- Familial dysfibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- AlphaMissense 0.79
- MetaLR 0.60
- MetaSVM 0.26
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.43
- ClinVar: Uncertain significance (Familial dysfibrinogenemia)
- EBI: Pathogenic (in dbSNP:rs121909607)
- UniProt: Pathogenic (in dbSNP:rs121909607)