D52E (p.Asp52Glu) variant of SLC34A3 (Q8N130)
D52E (p.Asp52Glu) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D52E (p.Asp52Glu) variant details
- p.Asp52Glu
- cosmic curated COSV63186
- ExAC rs781064068
- TOPMed rs781064068
- gnomAD rs781064068
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- MetaLR 0.07
- MetaSVM -1.02
- CADD 15.50
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available