R24P (p.Arg24Pro) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R24P (p.Arg24Pro) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R24P (p.Arg24Pro) variant details
- p.Arg24Pro
- gnomAD 11-2445169-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.95
- MetaSVM 0.98
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available