L71P (p.Leu71Pro) variant of GCH1 (GTP cyclohydrolase 1)
L71P (p.Leu71Pro) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GTP cyclohydrolase I deficiency; Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
L71P (p.Leu71Pro) variant details
- p.Leu71Pro
- rs1555362843
- ClinGen CA389793926
- ClinVar RCV000806490
- Ensembl rs1555362843
- Likely pathogenic
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (GTP cyclohydrolase I deficiency; Dystonia 5)
- EBI: Likely pathogenic (in DRD)
- UniProt: Likely pathogenic (in DRD)
- 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)