L128V (p.Leu128Val) variant of SLC35A2 (UDP-galactose translocator)
L128V (p.Leu128Val) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L128V (p.Leu128Val) variant details
- p.Leu128Val
- gnomAD X-48904862-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 6.94
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available