A99P (p.Ala99Pro) variant of GCH1 (GTP cyclohydrolase 1)
A99P (p.Ala99Pro) 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 0.95 / 1. The record also includes published literature and structural context.
A99P (p.Ala99Pro) variant details
- p.Ala99Pro
- rs1566687219
- ClinGen CA389793635
- ClinVar RCV002224401
- ClinVar RCV003774655
- Uncertain significance
- not provided; Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Uncertain significance (not provided; Dystonia 5; GTP cyclohydrolase I deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)