R20E (p.Arg20Glu) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
R20E (p.Arg20Glu) in SLC9A6 (Sodium/hydrogen exchanger 6) is a protein-truncating 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.
R20E (p.Arg20Glu) variant details
- p.Arg20Glu
- gnomAD X-135985556-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 16.40
- Population evidence available
- Structural context available
- Literature evidence available