Q87P (p.Gln87Pro) variant of GCH1 (GTP cyclohydrolase 1)
Q87P (p.Gln87Pro) 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; GTP cyclohydrolase I deficiency; Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
Q87P (p.Gln87Pro) variant details
- p.Gln87Pro
- rs1595031190
- ClinGen CA389793753
- ClinVar RCV000992032
- ClinVar RCV001858745
- Uncertain significance
- not provided; GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- AlphaMissense 0.58
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.01
- SIFT 0.02
- EVE 0.35
- ClinVar: Uncertain significance (not provided; GTP cyclohydrolase I deficiency; Dystonia 5)
- 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)