N45K (p.Asn45Lys) variant of GLG1 (Golgi apparatus protein 1)
N45K (p.Asn45Lys) in GLG1 (Golgi apparatus protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N45K (p.Asn45Lys) variant details
- p.Asn45Lys
- rs780912700
- ClinGen CA8168842
- ClinVar RCV004393040
- ExAC rs780912700
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.14
- MetaLR 0.03
- MetaSVM -1.06
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.90
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available