A3V (p.Ala3Val) variant of GLG1 (Golgi apparatus protein 1)
A3V (p.Ala3Val) 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 0.22 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- ExAC rs752535549
- TOPMed rs752535549
- gnomAD rs752535549
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.04
- CADD 24.60
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available