E8E (p.Glu8Glu) variant of SLC12A3 (P55017)
E8E (p.Glu8Glu) in SLC12A3 (P55017) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E8E (p.Glu8Glu) variant details
- p.Glu8Glu
- rs751696220
- gnomAD 16-56865259-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 5.46
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available