R9S (p.Arg9Ser) variant of GLG1 (Golgi apparatus protein 1)
R9S (p.Arg9Ser) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- ExAC rs745994442
- TOPMed rs745994442
- gnomAD rs745994442
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.22
- MetaLR 0.04
- MetaSVM -1.06
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.49
- Population evidence available
- Structural context available