L72H (p.Leu72His) variant of GLG1 (Golgi apparatus protein 1)
L72H (p.Leu72His) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L72H (p.Leu72His) variant details
- p.Leu72His
- gnomAD rs1274731254
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.00
- CADD 20.20
- PolyPhen-2 0.08
- SIFT 0.55
- Population evidence available
- Structural context available