A40E (p.Ala40Glu) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
A40E (p.Ala40Glu) in SLC9A6 (Sodium/hydrogen exchanger 6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A40E (p.Ala40Glu) variant details
- p.Ala40Glu
- rs2089321337
- gnomAD X-135985620-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 24.70
- Population evidence available
- Structural context available
- Literature evidence available