Y75C (p.Tyr75Cys) variant of GCH1 (GTP cyclohydrolase 1)
Y75C (p.Tyr75Cys) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, published literature, and structural context.
Y75C (p.Tyr75Cys) variant details
- p.Tyr75Cys
- UniProt VAR 072733
- Uncertain significance
- Missense
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. (PMID 23762320)