V34E (p.Val34Glu) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
V34E (p.Val34Glu) 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.
V34E (p.Val34Glu) variant details
- p.Val34Glu
- gnomAD X-135985602-GTGGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 24.70
- Population evidence available
- Structural context available
- Literature evidence available