Q76K (p.Gln76Lys) variant of GLG1 (Golgi apparatus protein 1)
Q76K (p.Gln76Lys) 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 0.30 / 1. The record also includes population frequency data and structural context.
Q76K (p.Gln76Lys) variant details
- p.Gln76Lys
- rs769468827
- ClinGen CA8168827
- ClinVar RCV004133595
- ExAC rs769468827
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.00
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.93
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available