A4A (p.Ala4Ala) variant of KCNQ4 (P56696)
A4A (p.Ala4Ala) in KCNQ4 (P56696) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- rs1288969367
- gnomAD 1-40784105-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 14.60
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available
- Literature evidence available