S100L (p.Ser100Leu) variant of GCH1 (GTP cyclohydrolase 1)
S100L (p.Ser100Leu) 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 Dystonia 5; GTP cyclohydrolase I deficiency with hyperphenylalaninemia; GTP cycl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S100L (p.Ser100Leu) variant details
- p.Ser100Leu
- rs527416949
- ClinGen CA260531733
- cosmic curated COSV54301
- ClinVar RCV001910908
- Uncertain significance
- Dystonia 5; GTP cyclohydrolase I deficiency with hyperphenylalaninemia; GTP cycl
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.38
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Dystonia 5; GTP cyclohydrolase I deficiency with hyperphenylalan)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)