M1I (p.Met1Ile) variant of GCH1 (GTP cyclohydrolase 1)
M1I (p.Met1Ile) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs104894439
- ClinGen CA254721
- ClinVar RCV000009859
- Pathogenic
- Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- MetaLR 0.95
- MetaSVM 1.20
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (Dystonia 5)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the… (PMID 9576537)
- Cited in: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia. (PMID 20301681)