E46E (p.Glu46Glu) variant of SLC12A1 (Q13621)
E46E (p.Glu46Glu) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E46E (p.Glu46Glu) variant details
- p.Glu46Glu
- gnomAD 15-48207857-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 8.49
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available