K93R (p.Lys93Arg) variant of GCH1 (GTP cyclohydrolase 1)
K93R (p.Lys93Arg) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of GTP cyclohydrolase I deficiency; Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
K93R (p.Lys93Arg) variant details
- p.Lys93Arg
- TOPMed rs960988987
- gnomAD rs960988987
- Uncertain significance
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.48
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.25
- ClinVar: Uncertain significance (GTP cyclohydrolase I deficiency; Dystonia 5)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available