P93A (p.Pro93Ala) variant of GLG1 (Golgi apparatus protein 1)
P93A (p.Pro93Ala) 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.
P93A (p.Pro93Ala) variant details
- p.Pro93Ala
- TOPMed rs1380179952
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.03
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.69
- Population evidence available
- Structural context available