A18A (p.Ala18Ala) variant of KCNQ4 (P56696)
A18A (p.Ala18Ala) in KCNQ4 (P56696) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- gnomAD 1-40784147-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 13.30
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available