A15S (p.Ala15Ser) variant of GLG1 (Golgi apparatus protein 1)
A15S (p.Ala15Ser) 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 0.33 / 1. The record also includes population frequency data and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- rs755962866
- ClinGen CA8168861
- ClinVar RCV004326415
- ExAC rs755962866
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -1.02
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.64
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available