E8D (p.Glu8Asp) variant of SLC12A3 (P55017)
E8D (p.Glu8Asp) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- ExAC rs751696220
- TOPMed rs751696220
- gnomAD rs751696220
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available