P14R (p.Pro14Arg) variant of KCNQ4 (P56696)
P14R (p.Pro14Arg) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P14R (p.Pro14Arg) variant details
- p.Pro14Arg
- gnomAD 1-40784129-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 23.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-06)
- Structural context available
- Literature evidence available