T123N (p.Thr123Asn) variant of SLC35A2 (UDP-galactose translocator)
T123N (p.Thr123Asn) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
T123N (p.Thr123Asn) variant details
- p.Thr123Asn
- gnomAD X-48906450-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.43
- CADD 24.80
- PolyPhen-2 0.26
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available