R68Q (p.Arg68Gln) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
R68Q (p.Arg68Gln) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R68Q (p.Arg68Gln) variant details
- p.Arg68Gln
- rs781844274
- gnomAD X-135994810-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 27.60
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available