A48V (p.Ala48Val) variant of SLC35A2 (UDP-galactose translocator)
A48V (p.Ala48Val) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- cosmic curated COSV55945
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.32
- CADD 27.10
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available