S17Y (p.Ser17Tyr) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
S17Y (p.Ser17Tyr) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S17Y (p.Ser17Tyr) variant details
- p.Ser17Tyr
- gnomAD X-135985678-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 23.90
- PolyPhen-2 0.73
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available