S46R (p.Ser46Arg) variant of GCH1 (GTP cyclohydrolase 1)
S46R (p.Ser46Arg) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GTP cyclohydrolase I deficiency; Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S46R (p.Ser46Arg) variant details
- p.Ser46Arg
- rs1239964950
- ClinGen CA389794197
- ClinVar RCV003804876
- ClinVar RCV004818418
- Uncertain significance
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.38
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (GTP cyclohydrolase I deficiency; Dystonia 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia. (PMID 20301681)
- Cited in: EFNS guidelines on diagnosis and treatment of primary dystonias. (PMID 20482602)