E59D (p.Glu59Asp) variant of SLC34A3 (Q8N130)
E59D (p.Glu59Asp) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E59D (p.Glu59Asp) variant details
- p.Glu59Asp
- 1000Genomes rs531529369
- ExAC rs531529369
- TOPMed rs531529369
- gnomAD rs531529369
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- MetaLR 0.05
- MetaSVM -1.05
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available