P14P (p.Pro14Pro) variant of KCNQ4 (P56696)
P14P (p.Pro14Pro) in KCNQ4 (P56696) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P14P (p.Pro14Pro) variant details
- p.Pro14Pro
- rs749544977
- gnomAD 1-40784135-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 13.60
- Most common in the Middle Eastern population (allele frequency 0.0016)
- Structural context available
- Literature evidence available