V6L (p.Val6Leu) variant of GCH1 (GTP cyclohydrolase 1)
V6L (p.Val6Leu) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GTP cyclohydrolase I deficiency; Dystonia 5; GTP cyclohydrolase I deficiency wit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V6L (p.Val6Leu) variant details
- p.Val6Leu
- rs1413964407
- TOPMed rs1413964407
- ClinGen CA389794927
- ClinVar RCV001948499
- Uncertain significance
- GTP cyclohydrolase I deficiency; Dystonia 5; GTP cyclohydrolase I deficiency wit
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.32
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (GTP cyclohydrolase I deficiency; Dystonia 5; GTP cyclohydrolase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)