R6S (p.Arg6Ser) variant of GLG1 (Golgi apparatus protein 1)
R6S (p.Arg6Ser) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- TOPMed rs1257521637
- gnomAD rs1257521637
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.24
- MetaLR 0.11
- MetaSVM -0.93
- CADD 25.80
- PolyPhen-2 0.17
- SIFT 0.00
- Population evidence available
- Structural context available