D43E (p.Asp43Glu) variant of SLC34A3 (Q8N130)
D43E (p.Asp43Glu) in SLC34A3 (Q8N130) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- TOPMed rs1005865796
- gnomAD rs1005865796
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- MetaLR 0.07
- MetaSVM -1.02
- CADD 13.80
- PolyPhen-2 0.15
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available