E56G (p.Glu56Gly) variant of KCNA2 (P16389)
E56G (p.Glu56Gly) in KCNA2 (P16389) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E56G (p.Glu56Gly) variant details
- p.Glu56Gly
- rs967536712
- gnomAD 1-110602132-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 8.79
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available