E49K (p.Glu49Lys) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
E49K (p.Glu49Lys) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and published literature.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- rs2089322133
- gnomAD X-135985647-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 15.30
- Population evidence available
- Literature evidence available