M211I (p.Met211Ile) variant of GCH1 (GTP cyclohydrolase 1)
M211I (p.Met211Ile) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GTP cyclohydrolase I deficiency with hyperphenylalaninemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
M211I (p.Met211Ile) variant details
- p.Met211Ile
- rs104894443
- ClinGen CA120282
- ClinVar RCV004576896
- UniProt VAR 002647
- Pathogenic
- GTP cyclohydrolase I deficiency with hyperphenylalaninemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.05
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.70
- ClinVar: Pathogenic (GTP cyclohydrolase I deficiency with hyperphenylalaninemia)
- EBI: Pathogenic (in HPABH4B)
- UniProt: Pathogenic (in HPABH4B)
- Structural context available
- Cited in: GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. (PMID 7501255)
- Cited in: Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I… (PMID 7730309)