G83A (p.Gly83Ala) variant of GCH1 (GTP cyclohydrolase 1)
G83A (p.Gly83Ala) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DRD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G83A (p.Gly83Ala) variant details
- p.Gly83Ala
- UniProt VAR 016890
- Pathogenic
- in DRD
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.90
- CADD 26.40
- PolyPhen-2 0.66
- SIFT 0.00
- EBI: Pathogenic (in DRD)
- UniProt: Pathogenic (in DRD)
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? (PMID 10825351)
- Cited in: Dopa-responsive dystonia: a clinical and molecular genetic study. (PMID 9778264)