E59S (p.Glu59Ser) variant of SLC34A3 (Q8N130)
E59S (p.Glu59Ser) in SLC34A3 (Q8N130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E59S (p.Glu59Ser) variant details
- p.Glu59Ser
- gnomAD 9-137232157-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 24.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available