K29N (p.Lys29Asn) variant of GLG1 (Golgi apparatus protein 1)
K29N (p.Lys29Asn) 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.
K29N (p.Lys29Asn) variant details
- p.Lys29Asn
- ExAC rs776697550
- gnomAD rs776697550
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.05
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.48
- Population evidence available
- Structural context available