E103K (p.Glu103Lys) variant of SLC35A2 (UDP-galactose translocator)
E103K (p.Glu103Lys) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E103K (p.Glu103Lys) variant details
- p.Glu103Lys
- rs782396941
- gnomAD X-48906361-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 5.35
- Most common in the 1KG:PJL population (allele frequency 0.007)
- Structural context available
- Literature evidence available