A98V (p.Ala98Val) variant of GCH1 (GTP cyclohydrolase 1)
A98V (p.Ala98Val) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GTP cyclohydrolase I deficiency; Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
A98V (p.Ala98Val) variant details
- p.Ala98Val
- rs2040580445
- ClinGen CA389793641
- cosmic curated COSV54301
- ClinVar RCV001206760
- Pathogenic
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- AlphaMissense 0.76
- MetaLR 0.93
- MetaSVM 0.89
- PolyPhen-2 0.50
- SIFT 0.55
- EVE 0.26
- ClinVar: Pathogenic (GTP cyclohydrolase I deficiency; Dystonia 5)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)