M10I (p.Met10Ile) variant of GLG1 (Golgi apparatus protein 1)
M10I (p.Met10Ile) in GLG1 (Golgi apparatus protein 1) is a missense change. Clinical records from ClinVar 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 0.33 / 1. The record also includes population frequency data and structural context.
M10I (p.Met10Ile) variant details
- p.Met10Ile
- cosmic curated COSV52663
- TOPMed rs1464344146
- gnomAD rs1464344146
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.03
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available