Q89* (p.Gln89Ter) variant of SLC35A2 (UDP-galactose translocator)
Q89* (p.Gln89Ter) in SLC35A2 (UDP-galactose translocator) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q89* (p.Gln89Ter) variant details
- p.Gln89Ter
- rs1557042835
- gnomAD X-48905181-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.24
- CADD 16.30
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.002)
- Structural context available
- Literature evidence available