E38E (p.Glu38Glu) variant of SLC34A3 (Q8N130)
E38E (p.Glu38Glu) in SLC34A3 (Q8N130) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E38E (p.Glu38Glu) variant details
- p.Glu38Glu
- rs1181248664
- gnomAD 9-137232100-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 0.58
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available