P30R (p.Pro30Arg) variant of GCH1 (GTP cyclohydrolase 1)
P30R (p.Pro30Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P30R (p.Pro30Arg) variant details
- p.Pro30Arg
- rs1477733062
- ClinGen CA389794441
- ClinVar RCV001904708
- TOPMed rs1477733062
- Uncertain significance
- Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.34
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Dystonia 5; GTP cyclohydrolase I deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)