E84Q (p.Glu84Gln) variant of GCH1 (GTP cyclohydrolase 1)
E84Q (p.Glu84Gln) 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 Dystonia 5; GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
E84Q (p.Glu84Gln) variant details
- p.Glu84Gln
- rs755556239
- ClinGen CA7193651
- ClinVar RCV001338249
- ExAC rs755556239
- Uncertain significance
- Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.63
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.09
- CADD 26.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Dystonia 5; GTP cyclohydrolase I deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)