S119R (p.Ser119Arg) variant of SLC35A2 (UDP-galactose translocator)
S119R (p.Ser119Arg) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S119R (p.Ser119Arg) variant details
- p.Ser119Arg
- rs781811843
- gnomAD X-48906470-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.03
- Population evidence available
- Structural context available
- Literature evidence available