R20A (p.Arg20Ala) variant of KCNQ4 (P56696)
R20A (p.Arg20Ala) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R20A (p.Arg20Ala) variant details
- p.Arg20Ala
- rs754748939
- gnomAD 1-40784145-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 23.60
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- Structural context available
- Literature evidence available