S14L (p.Ser14Leu) variant of GLG1 (Golgi apparatus protein 1)
S14L (p.Ser14Leu) 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 0.28 / 1. The record also includes population frequency data and structural context.
S14L (p.Ser14Leu) variant details
- p.Ser14Leu
- rs780009268
- ClinGen CA8168862
- NCI-TCGA Cosmic COSV9921
- cosmic curated COSV99215
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.04
- CADD 25.00
- PolyPhen-2 0.00
- SIFT 0.82
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available