R8G (p.Arg8Gly) variant of KCNQ4 (P56696)
R8G (p.Arg8Gly) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- rs1647180136
- gnomAD 1-40784104-CCCCCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 25.50
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available