R8A (p.Arg8Ala) variant of KCNQ4 (P56696)
R8A (p.Arg8Ala) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R8A (p.Arg8Ala) variant details
- p.Arg8Ala
- gnomAD 1-40784103-G-GCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available