Q9D (p.Gln9Asp) variant of KCNE2 (Q9Y6J6)
Q9D (p.Gln9Asp) in KCNE2 (Q9Y6J6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Q9D (p.Gln9Asp) variant details
- p.Gln9Asp
- gnomAD 21-34370498-TCA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 25.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available