K29T (p.Lys29Thr) variant of GLG1 (Golgi apparatus protein 1)
K29T (p.Lys29Thr) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K29T (p.Lys29Thr) variant details
- p.Lys29Thr
- ExAC rs759904910
- gnomAD rs759904910
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.06
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.45
- Population evidence available
- Structural context available