R3Q (p.Arg3Gln) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
R3Q (p.Arg3Gln) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- gnomAD X-135985510-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- CADD 19.80
- Population evidence available
- Structural context available
- Literature evidence available