D17D (p.Asp17Asp) variant of KCNQ4 (P56696)
D17D (p.Asp17Asp) in KCNQ4 (P56696) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D17D (p.Asp17Asp) variant details
- p.Asp17Asp
- rs1175167086
- gnomAD 1-40784144-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 13.20
- Most common in the East Asian population (allele frequency 0.00016)
- Structural context available
- Literature evidence available