R25L (p.Arg25Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R25L (p.Arg25Leu) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R25L (p.Arg25Leu) variant details
- p.Arg25Leu
- gnomAD 11-2445172-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.93
- MetaSVM 0.93
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available