E62D (p.Glu62Asp) variant of GCH1 (GTP cyclohydrolase 1)
E62D (p.Glu62Asp) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GTP cyclohydrolase I deficiency; Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E62D (p.Glu62Asp) variant details
- p.Glu62Asp
- rs752590798
- ClinGen CA7193666
- ClinVar RCV001905646
- ExAC rs752590798
- Uncertain significance
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.16
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 0.00
- SIFT 0.08
- MutPred 0.24
- ClinVar: Uncertain significance (GTP cyclohydrolase I deficiency; Dystonia 5)
- EBI: Likely benign
- UniProt: Likely benign
- 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)