R25del (p.Arg25del) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R25del (p.Arg25del) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R25del (p.Arg25del) variant details
- rs1846015232
- gnomAD 11-2445167-CCGG-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.699
- CADD 18.70
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Literature evidence available