E31E (p.Glu31Glu) variant of SLC12A1 (Q13621)
E31E (p.Glu31Glu) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E31E (p.Glu31Glu) variant details
- p.Glu31Glu
- rs1239472886
- gnomAD 15-48207812-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 3.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available