S119C (p.Ser119Cys) variant of SLC35A2 (UDP-galactose translocator)
S119C (p.Ser119Cys) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S119C (p.Ser119Cys) variant details
- p.Ser119Cys
- rs375311728
- gnomAD X-48905159-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 7.66
- Population evidence available
- Structural context available
- Literature evidence available