L92I (p.Leu92Ile) variant of GCH1 (GTP cyclohydrolase 1)
L92I (p.Leu92Ile) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency; Dystonia 5; GTP cyclohydrola. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L92I (p.Leu92Ile) variant details
- p.Leu92Ile
- rs763294577
- ClinGen CA7193645
- ClinVar RCV000626091
- ClinVar RCV005213365
- Conflicting interpretations
- 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency; Dystonia 5; GTP cyclohydrola
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.47
- AlphaMissense 0.53
- MetaLR 0.98
- MetaSVM 1.06
- CADD 23.40
- PolyPhen-2 0.47
- ClinVar: Conflicting classifications of pathogenicity (6-Pyruvoyl-tetrahydrobiopterin synthase deficiency; Dystonia 5;)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- 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)