R88L (p.Arg88Leu) variant of GCH1 (GTP cyclohydrolase 1)
R88L (p.Arg88Leu) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Abnormal central motor function; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
R88L (p.Arg88Leu) variant details
- p.Arg88Leu
- rs2140127157
- ClinGen CA389793742
- ClinVar RCV001814484
- ClinVar RCV002071935
- Likely pathogenic
- Abnormal central motor function; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Likely pathogenic (Abnormal central motor function; not provided)
- EBI: Likely pathogenic (in DRD)
- UniProt: Likely pathogenic (in DRD)
- Structural context available