R35P (p.Arg35Pro) variant of FGA (Fibrinogen alpha chain)
R35P (p.Arg35Pro) 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 0.60 / 1.
R35P (p.Arg35Pro) variant details
- p.Arg35Pro
- rs121909607
- ClinGen CA358533905
- ClinVar RCV000851972
- ExAC rs121909607
- Pathogenic
- Hypofibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- AlphaMissense 0.87
- MetaLR 0.60
- MetaSVM 0.26
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.42
- ClinVar: Pathogenic (Hypofibrinogenemia)
- EBI: Pathogenic (in dbSNP:rs121909607)
- UniProt: Pathogenic (in dbSNP:rs121909607)