S81P (p.Ser81Pro) variant of GCH1 (GTP cyclohydrolase 1)
S81P (p.Ser81Pro) 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 0.79 / 1. The record also includes published literature and structural context.
S81P (p.Ser81Pro) variant details
- p.Ser81Pro
- rs2140127208
- ClinGen CA389793826
- ClinVar RCV001960944
- Ensembl rs2140127208
- Uncertain significance
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.33
- SIFT 0.26
- EVE 0.42
- ClinVar: Uncertain significance (GTP cyclohydrolase I deficiency; Dystonia 5)
- 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)