D38E (p.Asp38Glu) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
D38E (p.Asp38Glu) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D38E (p.Asp38Glu) variant details
- p.Asp38Glu
- rs1556614794
- gnomAD X-135985664-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 11.40
- PolyPhen-2 0.01
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available