A2V (p.Ala2Val) variant of GLG1 (Golgi apparatus protein 1)
A2V (p.Ala2Val) 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 0.37 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs781349197
- ClinGen CA8168885
- ClinVar RCV004242424
- ExAC rs781349197
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.21
- MetaLR 0.09
- MetaSVM -0.93
- CADD 25.20
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available