R6C (p.Arg6Cys) variant of GLG1 (Golgi apparatus protein 1)
R6C (p.Arg6Cys) in GLG1 (Golgi apparatus protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- TOPMed rs1257521637
- gnomAD rs1257521637
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.24
- MetaLR 0.15
- MetaSVM -0.85
- CADD 32.00
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available