V205E (p.Val205Glu) variant of GCH1 (GTP cyclohydrolase 1)
V205E (p.Val205Glu) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dystonia 5; GTP cyclohydrolase I deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V205E (p.Val205Glu) variant details
- p.Val205Glu
- rs1418922853
- ClinGen CA389787285
- ClinVar RCV000696865
- ClinVar RCV000711754
- Pathogenic
- Dystonia 5; GTP cyclohydrolase I deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.97
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Pathogenic (Dystonia 5; GTP cyclohydrolase I deficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)