E49D (p.Glu49Asp) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
E49D (p.Glu49Asp) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and published literature.
E49D (p.Glu49Asp) variant details
- p.Glu49Asp
- gnomAD X-135985694-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 14.60
- PolyPhen-2 0.95
- SIFT 0.11
- Population evidence available
- Literature evidence available