A94V (p.Ala94Val) variant of GLG1 (Golgi apparatus protein 1)
A94V (p.Ala94Val) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A94V (p.Ala94Val) variant details
- p.Ala94Val
- cosmic curated COSV99215
- TOPMed rs1008502647
- gnomAD rs1008502647
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.17
- MetaLR 0.02
- MetaSVM -1.02
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available