S80C (p.Ser80Cys) variant of GCH1 (GTP cyclohydrolase 1)
S80C (p.Ser80Cys) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
S80C (p.Ser80Cys) variant details
- p.Ser80Cys
- rs2140127221
- ClinGen CA389793834
- ClinVar RCV001997935
- ClinVar RCV006367874
- Uncertain significance
- GTP cyclohydrolase I deficiency; Dystonia 5; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- AlphaMissense 0.05
- MetaLR 0.96
- MetaSVM 0.97
- PolyPhen-2 0.13
- SIFT 0.03
- EVE 0.19
- ClinVar: Uncertain significance (GTP cyclohydrolase I deficiency; Dystonia 5; Inborn genetic dise)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)