Q80P (p.Gln80Pro) variant of GLG1 (Golgi apparatus protein 1)
Q80P (p.Gln80Pro) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
Q80P (p.Gln80Pro) variant details
- p.Gln80Pro
- cosmic curated COSV52676
- 1000Genomes rs377766887
- ExAC rs377766887
- TOPMed rs377766887
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -0.97
- CADD 9.03
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available