E59E (p.Glu59Glu) variant of SLC34A3 (Q8N130)
E59E (p.Glu59Glu) in SLC34A3 (Q8N130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E59E (p.Glu59Glu) variant details
- p.Glu59Glu
- rs531529369
- gnomAD 9-137232576-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 9.24
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available