P86R (p.Pro86Arg) variant of GCH1 (GTP cyclohydrolase 1)
P86R (p.Pro86Arg) 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 GTP cyclohydrolase I deficiency; Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
P86R (p.Pro86Arg) variant details
- p.Pro86Arg
- rs1555362836
- ClinGen CA389793764
- ClinVar RCV000634831
- Ensembl rs1555362836
- Uncertain significance
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 0.62
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.57
- ClinVar: Uncertain significance (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)