M1V (p.Met1Val) variant of GCH1 (GTP cyclohydrolase 1)
M1V (p.Met1Val) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Dystonia 5; GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1555362907
- ClinGen CA389795049
- ClinVar RCV000796195
- ClinVar RCV002245673
- Pathogenic
- not provided; Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- MetaLR 0.94
- MetaSVM 0.95
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (not provided; Dystonia 5; GTP cyclohydrolase I deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)