P137Q (p.Pro137Gln) variant of SLC35A2 (UDP-galactose translocator)
P137Q (p.Pro137Gln) 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.
P137Q (p.Pro137Gln) variant details
- p.Pro137Gln
- gnomAD X-48906408-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.32
- CADD 24.60
- PolyPhen-2 0.27
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available