R401W (p.Arg401Trp) variant of FGG (Fibrinogen gamma chain)
R401W (p.Arg401Trp) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary spastic paraplegia 4; Congenital afibrinogenemia; Familial dysfibrino. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R401W (p.Arg401Trp) variant details
- p.Arg401Trp
- rs75848804
- ClinGen CA108774405
- ClinVar RCV003314519
- ClinVar RCV005412537
- Pathogenic
- Hereditary spastic paraplegia 4; Congenital afibrinogenemia; Familial dysfibrino
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.66
- AlphaMissense 0.84
- MetaLR 0.52
- MetaSVM 0.04
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Hereditary spastic paraplegia 4; Congenital afibrinogenemia; Fam)
- EBI: Pathogenic (in CAFBN)
- UniProt: Pathogenic (in CAFBN)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency. (PMID 25427968)
- Cited in: Spastic Paraplegia 4. (PMID 20301339)