M10L (p.Met10Leu) variant of GLG1 (Golgi apparatus protein 1)
M10L (p.Met10Leu) 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 0.23 / 1. The record also includes population frequency data and structural context.
M10L (p.Met10Leu) variant details
- p.Met10Leu
- rs771156802
- ClinGen CA8168867
- ClinVar RCV004195784
- ExAC rs771156802
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.05
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available