H18R (p.His18Arg) variant of GLG1 (Golgi apparatus protein 1)
H18R (p.His18Arg) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H18R (p.His18Arg) variant details
- p.His18Arg
- cosmic curated COSV10585
- TOPMed rs1448321282
- gnomAD rs1448321282
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.22
- MetaLR 0.05
- MetaSVM -1.02
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Structural context available