W45* (p.Trp45Ter) variant of SLC34A3 (Q8N130)
W45* (p.Trp45Ter) in SLC34A3 (Q8N130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
W45* (p.Trp45Ter) variant details
- p.Trp45Ter
- ExAC rs764856747
- gnomAD rs764856747
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 42.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available