S40R (p.Ser40Arg) variant of KCNA2 (P16389)
S40R (p.Ser40Arg) in KCNA2 (P16389) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S40R (p.Ser40Arg) variant details
- p.Ser40Arg
- gnomAD 1-110602137-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 5.55
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available