A17E (p.Ala17Glu) variant of SLC35A2 (UDP-galactose translocator)
A17E (p.Ala17Glu) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A17E (p.Ala17Glu) variant details
- p.Ala17Glu
- cosmic curated COSV10582
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.04
- CADD 13.20
- PolyPhen-2 0.05
- SIFT 0.62
- Population evidence available
- Structural context available