L17Q (p.Leu17Gln) variant of GLG1 (Golgi apparatus protein 1)
L17Q (p.Leu17Gln) in GLG1 (Golgi apparatus protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
L17Q (p.Leu17Gln) variant details
- p.Leu17Gln
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.19
- MetaLR 0.07
- MetaSVM -1.02
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available