R9L (p.Arg9Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R9L (p.Arg9Leu) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- gnomAD 11-2444693-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.21
- CADD 4.62
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available