G15S (p.Gly15Ser) variant of GCH1 (GTP cyclohydrolase 1)
G15S (p.Gly15Ser) 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 Dystonia 5; GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G15S (p.Gly15Ser) variant details
- p.Gly15Ser
- rs1214036983
- ClinGen CA389794762
- ClinVar RCV003060157
- TOPMed rs1214036983
- Uncertain significance
- Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.28
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Dystonia 5; GTP cyclohydrolase I deficiency)
- EBI: Variant of uncertain significance (in HGCH-3)
- UniProt: Uncertain significance (in HGCH-3)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- 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)