S48Y (p.Ser48Tyr) variant of GLG1 (Golgi apparatus protein 1)
S48Y (p.Ser48Tyr) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S48Y (p.Ser48Tyr) variant details
- p.Ser48Tyr
- gnomAD rs1477697300
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -0.97
- CADD 18.00
- PolyPhen-2 0.06
- SIFT 0.04
- Population evidence available
- Structural context available