R88P (p.Arg88Pro) variant of GCH1 (GTP cyclohydrolase 1)
R88P (p.Arg88Pro) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DRD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R88P (p.Arg88Pro) variant details
- p.Arg88Pro
- UniProt VAR 002635
- Pathogenic
- in DRD
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in DRD)
- UniProt: Pathogenic (in DRD)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic… (PMID 8852666)
- Cited in: A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia. (PMID 10076897)