A8T (p.Ala8Thr) variant of GCH1 (GTP cyclohydrolase 1)
A8T (p.Ala8Thr) 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 not provided; Inborn genetic diseases; GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs529381971
- ClinGen CA260531807
- ClinVar RCV000711751
- ClinVar RCV001055986
- Uncertain significance
- not provided; Inborn genetic diseases; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.27
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; GTP cyclohydrolase I defi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)