V143A (p.Val143Ala) variant of SLC35A2 (UDP-galactose translocator)
V143A (p.Val143Ala) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V143A (p.Val143Ala) variant details
- p.Val143Ala
- gnomAD X-48905481-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.38
- CADD 28.10
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available