G4S (p.Gly4Ser) variant of GCH1 (GTP cyclohydrolase 1)
G4S (p.Gly4Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G4S (p.Gly4Ser) variant details
- p.Gly4Ser
- rs764013857
- ClinGen CA389794973
- ClinVar RCV003131003
- ClinVar RCV003778702
- Uncertain significance
- Dystonia 5; GTP cyclohydrolase I deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.47
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.08
- ClinVar: Uncertain significance (Dystonia 5; GTP cyclohydrolase I deficiency; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)