M1L (p.Met1Leu) variant of GCH1 (GTP cyclohydrolase 1)
M1L (p.Met1Leu) 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; GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1555362907
- ClinGen CA389795046
- ClinVar RCV001388236
- ClinGen CA389795057
- Pathogenic
- 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 (Dystonia 5; GTP cyclohydrolase I deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)