E12R (p.Glu12Arg) variant of KCNE2 (Q9Y6J6)
E12R (p.Glu12Arg) in KCNE2 (Q9Y6J6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E12R (p.Glu12Arg) variant details
- p.Glu12Arg
- rs1979530148
- gnomAD 21-34370511-GGA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 24.90
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available