R88G (p.Arg88Gly) variant of GCH1 (GTP cyclohydrolase 1)
R88G (p.Arg88Gly) 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 Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
R88G (p.Arg88Gly) variant details
- p.Arg88Gly
- ExAC rs104894433
- gnomAD rs104894433
- Likely pathogenic
- Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.92
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.98
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Dystonia 5)
- EBI: Pathogenic (in DRD)
- UniProt: Pathogenic (in DRD)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available