G21W (p.Gly21Trp) variant of GCH1 (GTP cyclohydrolase 1)
G21W (p.Gly21Trp) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar 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 0.59 / 1. The record also includes population frequency data and structural context.
G21W (p.Gly21Trp) variant details
- p.Gly21Trp
- TOPMed rs1342263570
- Uncertain significance
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.56
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (GTP cyclohydrolase I deficiency; Dystonia 5)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available