A27V (p.Ala27Val) variant of GLG1 (Golgi apparatus protein 1)
A27V (p.Ala27Val) in GLG1 (Golgi apparatus protein 1) is a missense change. 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.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- ExAC rs775681020
- gnomAD rs775681020
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.03
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.48
- Population evidence available
- Structural context available