E48K (p.Glu48Lys) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
E48K (p.Glu48Lys) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- TOPMed rs897639279
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.12
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available