L68F (p.Leu68Phe) variant of GCH1 (GTP cyclohydrolase 1)
L68F (p.Leu68Phe) 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; Dystonia 5; GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L68F (p.Leu68Phe) variant details
- p.Leu68Phe
- rs2040582582
- ClinGen CA389793956
- ClinVar RCV002790253
- ClinVar RCV006281070
- Uncertain significance
- not provided; Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.59
- CADD 26.80
- PolyPhen-2 0.85
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Dystonia 5; GTP cyclohydrolase I deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)