W57* (p.Trp57Ter) variant of SLC34A3 (Q8N130)
W57* (p.Trp57Ter) in SLC34A3 (Q8N130) is a protein-truncating 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.
W57* (p.Trp57Ter) variant details
- p.Trp57Ter
- gnomAD 9-137232157-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 38.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available