E59A (p.Glu59Ala) variant of SLC34A3 (Q8N130)
E59A (p.Glu59Ala) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E59A (p.Glu59Ala) variant details
- p.Glu59Ala
- ExAC rs761399770
- TOPMed rs761399770
- gnomAD rs761399770
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- MetaLR 0.09
- MetaSVM -1.06
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available