S119L (p.Ser119Leu) variant of SLC35A2 (UDP-galactose translocator)
S119L (p.Ser119Leu) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S119L (p.Ser119Leu) variant details
- p.Ser119Leu
- rs781951327
- gnomAD X-48905186-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0842
- CADD 0.56
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available
- Literature evidence available