S70L (p.Ser70Leu) variant of GLG1 (Golgi apparatus protein 1)
S70L (p.Ser70Leu) 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 0.22 / 1. The record also includes population frequency data and structural context.
S70L (p.Ser70Leu) variant details
- p.Ser70Leu
- ExAC rs761881073
- TOPMed rs761881073
- gnomAD rs761881073
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -0.99
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available