R20* (p.Arg20Ter) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
R20* (p.Arg20Ter) in SLC9A6 (Sodium/hydrogen exchanger 6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R20* (p.Arg20Ter) variant details
- p.Arg20Ter
- rs1556614733
- gnomAD X-135985560-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 26.90
- Population evidence available
- Structural context available
- Literature evidence available