M211V (p.Met211Val) variant of GCH1 (GTP cyclohydrolase 1)
M211V (p.Met211Val) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dystonia 5; GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
M211V (p.Met211Val) variant details
- p.Met211Val
- rs2140038951
- ClinGen CA389787238
- ClinVar RCV003783610
- UniProt VAR 016903
- Likely pathogenic
- Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- AlphaMissense 0.35
- MetaLR 0.96
- MetaSVM 1.16
- PolyPhen-2 0.21
- SIFT 0.28
- EVE 0.17
- ClinVar: Likely pathogenic (Dystonia 5; GTP cyclohydrolase I deficiency)
- EBI: Pathogenic (in DRD)
- UniProt: Pathogenic (in DRD)
- Structural context available
- Cited in: Dopa-responsive dystonia: a clinical and molecular genetic study. (PMID 9778264)
- Cited in: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia. (PMID 20301681)