R26E (p.Arg26Glu) variant of SLC34A3 (Q8N130)
R26E (p.Arg26Glu) in SLC34A3 (Q8N130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R26E (p.Arg26Glu) variant details
- p.Arg26Glu
- gnomAD 9-137231775-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available