E84K (p.Glu84Lys) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
E84K (p.Glu84Lys) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E84K (p.Glu84Lys) variant details
- p.Glu84Lys
- ExAC rs751973348
- TOPMed rs751973348
- gnomAD rs751973348
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.48
- CADD 27.10
- PolyPhen-2 0.59
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available