D29E (p.Asp29Glu) variant of SLC12A3 (P55017)
D29E (p.Asp29Glu) in SLC12A3 (P55017) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D29E (p.Asp29Glu) variant details
- p.Asp29Glu
- rs1964325492
- gnomAD 16-56865321-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 5.20
- Population evidence available
- Structural context available
- Literature evidence available