R24L (p.Arg24Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R24L (p.Arg24Leu) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R24L (p.Arg24Leu) variant details
- p.Arg24Leu
- gnomAD 11-2445169-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.93
- MetaSVM 0.70
- CADD 23.50
- Population evidence available
- Structural context available
- Literature evidence available