L92F (p.Leu92Phe) variant of GCH1 (GTP cyclohydrolase 1)
L92F (p.Leu92Phe) 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 0.78 / 1. The record also includes published literature and structural context.
L92F (p.Leu92Phe) variant details
- p.Leu92Phe
- rs763294577
- ClinGen CA389793710
- ClinVar RCV001329662
- ClinVar RCV005225374
- Uncertain significance
- Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- AlphaMissense 0.53
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.47
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (Dystonia 5; GTP cyclohydrolase I deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)