P28S (p.Pro28Ser) variant of GCH1 (GTP cyclohydrolase 1)
P28S (p.Pro28Ser) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- rs759709001
- ClinGen CA7193681
- ClinVar RCV003011708
- ExAC rs759709001
- Uncertain significance
- Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.34
- CADD 8.39
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Dystonia 5; GTP cyclohydrolase I deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)