P6R (p.Pro6Arg) variant of KCNQ4 (P56696)
P6R (p.Pro6Arg) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- gnomAD 1-40784103-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.542
- CADD 23.40
- Most common in the Middle Eastern population (allele frequency 0.0015)
- Structural context available
- Literature evidence available