E65Q (p.Glu65Gln) variant of GCH1 (GTP cyclohydrolase 1)
E65Q (p.Glu65Gln) 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 Inborn genetic diseases; Dystonia 5; GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E65Q (p.Glu65Gln) variant details
- p.Glu65Gln
- rs1281386674
- ClinGen CA389793992
- ClinVar RCV001908001
- ClinVar RCV004980831
- Uncertain significance
- Inborn genetic diseases; Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.31
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases; Dystonia 5; GTP cyclohydrolase I defici)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)