H18P (p.His18Pro) variant of GLG1 (Golgi apparatus protein 1)
H18P (p.His18Pro) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
H18P (p.His18Pro) variant details
- p.His18Pro
- TOPMed rs1448321282
- gnomAD rs1448321282
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.13
- MetaLR 0.05
- MetaSVM -1.03
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available