E38D (p.Glu38Asp) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
E38D (p.Glu38Asp) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data and structural context.
E38D (p.Glu38Asp) variant details
- p.Glu38Asp
- rs1215714557
- ClinGen CA359018385
- ClinVar RCV001901785
- TOPMed rs1215714557
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0311
- REVEL 0.01
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available