C4Y (p.Cys4Tyr) variant of GLG1 (Golgi apparatus protein 1)
C4Y (p.Cys4Tyr) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
C4Y (p.Cys4Tyr) variant details
- p.Cys4Tyr
- TOPMed rs1269347677
- gnomAD rs1269347677
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.23
- MetaLR 0.13
- MetaSVM -0.90
- CADD 27.00
- PolyPhen-2 0.28
- SIFT 0.00
- Population evidence available
- Structural context available