R8W (p.Arg8Trp) variant of GLG1 (Golgi apparatus protein 1)
R8W (p.Arg8Trp) 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 0.28 / 1. The record also includes population frequency data and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs764483025
- ClinGen CA8168873
- cosmic curated COSV10456
- ClinVar RCV004288122
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.09
- MetaLR 0.08
- MetaSVM -0.97
- CADD 25.70
- PolyPhen-2 0.12
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available