M10V (p.Met10Val) variant of GLG1 (Golgi apparatus protein 1)
M10V (p.Met10Val) in GLG1 (Golgi apparatus protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
M10V (p.Met10Val) variant details
- p.Met10Val
- ExAC rs771156802
- TOPMed rs771156802
- gnomAD rs771156802
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.18
- MetaLR 0.07
- MetaSVM -1.03
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available