S80N (p.Ser80Asn) variant of GCH1 (GTP cyclohydrolase 1)
S80N (p.Ser80Asn) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S80N (p.Ser80Asn) variant details
- p.Ser80Asn
- rs770547722
- ClinGen CA7193654
- ClinVar RCV001546383
- ClinVar RCV002568967
- Conflicting interpretations
- not specified; not provided; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.39
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; GTP cyclohydrolase I deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)