Q146K (p.Gln146Lys) variant of SLC35A2 (UDP-galactose translocator)
Q146K (p.Gln146Lys) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Q146K (p.Gln146Lys) variant details
- p.Gln146Lys
- gnomAD X-48905473-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.61
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available