V143V (p.Val143Val) variant of SLC35A2 (UDP-galactose translocator)
V143V (p.Val143Val) in SLC35A2 (UDP-galactose translocator) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V143V (p.Val143Val) variant details
- p.Val143Val
- gnomAD X-48905480-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 15.10
- Population evidence available
- Structural context available
- Literature evidence available