L66Q (p.Leu66Gln) variant of GLG1 (Golgi apparatus protein 1)
L66Q (p.Leu66Gln) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L66Q (p.Leu66Gln) variant details
- p.Leu66Gln
- gnomAD rs1188620150
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -1.03
- CADD 19.90
- PolyPhen-2 0.04
- SIFT 0.52
- Population evidence available
- Structural context available