D17R (p.Asp17Arg) variant of KCNQ4 (P56696)
D17R (p.Asp17Arg) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D17R (p.Asp17Arg) variant details
- p.Asp17Arg
- gnomAD 1-40784138-CGG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 24.60
- Population evidence available
- Structural context available
- Literature evidence available