Q65R (p.Gln65Arg) variant of GLG1 (Golgi apparatus protein 1)
Q65R (p.Gln65Arg) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q65R (p.Gln65Arg) variant details
- p.Gln65Arg
- gnomAD rs1268189393
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.06
- MetaLR 0.02
- MetaSVM -0.98
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.56
- Population evidence available
- Structural context available