E24D (p.Glu24Asp) variant of GCH1 (GTP cyclohydrolase 1)
E24D (p.Glu24Asp) 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 0.43 / 1. The record also includes population frequency data and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- TOPMed rs1206554765
- gnomAD rs1206554765
- Uncertain significance
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.24
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (GTP cyclohydrolase I deficiency; Dystonia 5)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available