E49G (p.Glu49Gly) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
E49G (p.Glu49Gly) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and published literature.
E49G (p.Glu49Gly) variant details
- p.Glu49Gly
- rs782569149
- gnomAD X-135985669-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 22.20
- PolyPhen-2 0.77
- SIFT 0.06
- Population evidence available
- Literature evidence available