R35C (p.Arg35Cys) variant of FGA (Fibrinogen alpha chain)
R35C (p.Arg35Cys) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial dysfibrinogenemia; not provided; Congenital afibrinogenemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and published literature.
R35C (p.Arg35Cys) variant details
- p.Arg35Cys
- rs121909606
- ClinGen CA126465
- NCI-TCGA Cosmic COSV5739
- cosmic curated COSV57393
- Pathogenic/Likely pathogenic
- Familial dysfibrinogenemia; not provided; Congenital afibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.44
- AlphaMissense 0.79
- MetaLR 0.60
- MetaSVM 0.26
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Familial dysfibrinogenemia; not provided; Congenital afibrinogen)
- EBI: Pathogenic (in DYSFIBRIN)
- UniProt: Pathogenic (in DYSFIBRIN)
- Most common in the African/African-American population (allele frequency 3e-05)
- Cited in: Fibrinogen Milano XII: a dysfunctional variant containing 2 amino acid substitutions, Aalpha R16C and gamma G165R. (PMID 11435303)
- Cited in: A database for human fibrinogen variants. (PMID 11460527)