Q9R (p.Gln9Arg) variant of KCNE2 (Q9Y6J6)
Q9R (p.Gln9Arg) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
Q9R (p.Gln9Arg) variant details
- p.Gln9Arg
- ExAC rs758038035
- gnomAD rs758038035
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available