E30E (p.Glu30Glu) variant of SLC12A3 (P55017)
E30E (p.Glu30Glu) in SLC12A3 (P55017) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E30E (p.Glu30Glu) variant details
- p.Glu30Glu
- gnomAD 16-56865325-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.17
- CADD 2.46
- Population evidence available
- Structural context available
- Literature evidence available