L13F (p.Leu13Phe) variant of GLG1 (Golgi apparatus protein 1)
L13F (p.Leu13Phe) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- cosmic curated COSV52665
- ExAC rs754788878
- gnomAD rs754788878
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -0.97
- CADD 25.80
- PolyPhen-2 0.44
- SIFT 0.25
- Population evidence available
- Structural context available