R7A (p.Arg7Ala) variant of KCNQ4 (P56696)
R7A (p.Arg7Ala) 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.
R7A (p.Arg7Ala) variant details
- p.Arg7Ala
- rs1296567197
- gnomAD 1-40784103-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.548
- CADD 24.10
- Most common in the REMAINING population (allele frequency 0.00053)
- Structural context available
- Literature evidence available