D12E (p.Asp12Glu) variant of SLC12A3 (P55017)
D12E (p.Asp12Glu) in SLC12A3 (P55017) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D12E (p.Asp12Glu) variant details
- p.Asp12Glu
- rs1964322654
- gnomAD 16-56865269-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 22.90
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available