E49Q (p.Glu49Gln) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
E49Q (p.Glu49Gln) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
E49Q (p.Glu49Gln) variant details
- p.Glu49Gln
- gnomAD X-135985665-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 22.70
- PolyPhen-2 0.83
- SIFT 0.11
- Population evidence available
- Literature evidence available