L120V (p.Leu120Val) variant of SLC35A2 (UDP-galactose translocator)
L120V (p.Leu120Val) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L120V (p.Leu120Val) variant details
- p.Leu120Val
- gnomAD X-48906460-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.24
- CADD 22.80
- PolyPhen-2 0.24
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available