R8G (p.Arg8Gly) variant of GLG1 (Golgi apparatus protein 1)
R8G (p.Arg8Gly) 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 0.30 / 1. The record also includes population frequency data and structural context.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- rs764483025
- ClinGen CA283753206
- ClinVar RCV004168582
- ExAC rs764483025
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.12
- MetaLR 0.13
- MetaSVM -0.90
- CADD 25.10
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available