R43R (p.Arg43Arg) variant of KCNA2 (P16389)
R43R (p.Arg43Arg) in KCNA2 (P16389) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R43R (p.Arg43Arg) variant details
- p.Arg43Arg
- gnomAD 1-110603894-G-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 13.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available