P28L (p.Pro28Leu) variant of GCH1 (GTP cyclohydrolase 1)
P28L (p.Pro28Leu) 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 not provided; GTP cyclohydrolase I deficiency; Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- rs774568081
- ClinGen CA7193680
- ClinVar RCV001949710
- ClinVar RCV006280820
- Uncertain significance
- not provided; GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.38
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; GTP cyclohydrolase I deficiency; Dystonia 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)