E68E (p.Glu68Glu) variant of SLC12A1 (Q13621)
E68E (p.Glu68Glu) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E68E (p.Glu68Glu) variant details
- p.Glu68Glu
- gnomAD 15-48207923-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.31
- CADD 8.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available