Q80H (p.Gln80His) variant of GLG1 (Golgi apparatus protein 1)
Q80H (p.Gln80His) 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.
Q80H (p.Gln80His) variant details
- p.Gln80His
- cosmic curated COSV52676
- 1000Genomes rs374123768
- TOPMed rs374123768
- gnomAD rs374123768
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.09
- MetaLR 0.02
- MetaSVM -1.03
- CADD 11.90
- PolyPhen-2 0.09
- SIFT 0.12
- Population evidence available
- Structural context available