K93N (p.Lys93Asn) variant of GCH1 (GTP cyclohydrolase 1)
K93N (p.Lys93Asn) 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 Inborn genetic diseases; Dystonia 5; GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
K93N (p.Lys93Asn) variant details
- p.Lys93Asn
- rs2040580789
- ClinGen CA389793692
- ClinVar RCV002782690
- ClinVar RCV003777749
- Uncertain significance
- Inborn genetic diseases; Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- AlphaMissense 0.85
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.34
- SIFT 0.05
- EVE 0.23
- ClinVar: Uncertain significance (Inborn genetic diseases; Dystonia 5; GTP cyclohydrolase I defici)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)