A25R (p.Ala25Arg) variant of KCNQ4 (P56696)
A25R (p.Ala25Arg) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A25R (p.Ala25Arg) variant details
- p.Ala25Arg
- gnomAD 1-40784164-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.548
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available