R68W (p.Arg68Trp) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
R68W (p.Arg68Trp) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R68W (p.Arg68Trp) variant details
- p.Arg68Trp
- rs782767811
- gnomAD X-135994809-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 28.60
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available