R12L (p.Arg12Leu) variant of GLG1 (Golgi apparatus protein 1)
R12L (p.Arg12Leu) in GLG1 (Golgi apparatus protein 1) is a missense change. 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.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- cosmic curated COSV52666
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.04
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available