R12S (p.Arg12Ser) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
R12S (p.Arg12Ser) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R12S (p.Arg12Ser) variant details
- p.Arg12Ser
- rs1237626837
- gnomAD X-135985536-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 11.90
- Population evidence available
- Structural context available
- Literature evidence available