R20R (p.Arg20Arg) variant of KCNQ4 (P56696)
R20R (p.Arg20Arg) in KCNQ4 (P56696) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R20R (p.Arg20Arg) variant details
- p.Arg20Arg
- rs1342847028
- gnomAD 1-40784153-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 13.00
- Most common in the South Asian population (allele frequency 7.1e-05)
- Structural context available
- Literature evidence available