D51E (p.Asp51Glu) variant of GCH1 (GTP cyclohydrolase 1)
D51E (p.Asp51Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D51E (p.Asp51Glu) variant details
- p.Asp51Glu
- rs745516526
- ClinGen CA16606999
- ClinVar RCV000424438
- ClinVar RCV002522692
- Uncertain significance
- Dystonia 5; GTP cyclohydrolase I deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.33
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Dystonia 5; GTP cyclohydrolase I deficiency; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- 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)