Q62K (p.Gln62Lys) variant of GLG1 (Golgi apparatus protein 1)
Q62K (p.Gln62Lys) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
Q62K (p.Gln62Lys) variant details
- p.Gln62Lys
- gnomAD rs1165842699
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.01
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.98
- Population evidence available
- Structural context available