P23L (p.Pro23Leu) variant of GCH1 (GTP cyclohydrolase 1)
P23L (p.Pro23Leu) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of GTP cyclohydrolase I deficiency; Dystonia 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- rs41298432
- ClinGen CA7193683
- cosmic curated COSV54302
- ClinVar RCV000263675
- Conflicting interpretations
- GTP cyclohydrolase I deficiency; Dystonia 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.61
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.96
- ClinVar: Conflicting classifications of pathogenicity (GTP cyclohydrolase I deficiency; Dystonia 5; not provided)
- EBI: Pathogenic (in DRD)
- UniProt: Pathogenic (in DRD)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. (PMID 9328244)
- Cited in: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia. (PMID 20301681)