W42* (p.Trp42Ter) variant of SLC5A2 (Sodium/glucose cotransporter 2)
W42* (p.Trp42Ter) in SLC5A2 (Sodium/glucose cotransporter 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
W42* (p.Trp42Ter) variant details
- p.Trp42Ter
- 1000Genomes rs199808451
- ExAC rs199808451
- gnomAD rs199808451
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.899
- CADD 58.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available