F11C (p.Phe11Cys) variant of GLG1 (Golgi apparatus protein 1)
F11C (p.Phe11Cys) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
F11C (p.Phe11Cys) variant details
- p.Phe11Cys
- gnomAD rs1379159360
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.48
- MetaLR 0.06
- MetaSVM -1.06
- CADD 26.40
- PolyPhen-2 0.24
- SIFT 0.01
- Population evidence available
- Structural context available