P40R (p.Pro40Arg) variant of GCH1 (GTP cyclohydrolase 1)
P40R (p.Pro40Arg) 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 Inborn genetic diseases; Dystonia 5; GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P40R (p.Pro40Arg) variant details
- p.Pro40Arg
- rs995999325
- ClinGen CA260531777
- ClinVar RCV000556657
- ClinVar RCV002527705
- Uncertain significance
- Inborn genetic diseases; Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.36
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases; Dystonia 5; GTP cyclohydrolase I defici)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)