R14P (p.Arg14Pro) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R14P (p.Arg14Pro) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R14P (p.Arg14Pro) variant details
- p.Arg14Pro
- gnomAD 11-2445139-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.92
- MetaSVM 0.62
- CADD 21.20
- Population evidence available
- Structural context available
- Literature evidence available