Q71K (p.Gln71Lys) variant of GLG1 (Golgi apparatus protein 1)
Q71K (p.Gln71Lys) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q71K (p.Gln71Lys) variant details
- p.Gln71Lys
- gnomAD rs1197570248
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.08
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available