A139V (p.Ala139Val) variant of SLC35A2 (UDP-galactose translocator)
A139V (p.Ala139Val) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A139V (p.Ala139Val) variant details
- p.Ala139Val
- TOPMed rs1557043113
- gnomAD rs1557043113
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.45
- CADD 28.00
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the 1KG:PJL population (allele frequency 0.007)
- Structural context available