R82A (p.Arg82Ala) variant of KCNA2 (P16389)
R82A (p.Arg82Ala) in KCNA2 (P16389) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R82A (p.Arg82Ala) variant details
- p.Arg82Ala
- gnomAD 1-110604538-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 27.50
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available