L20P (p.Leu20Pro) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
L20P (p.Leu20Pro) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- rs1589883851
- gnomAD 11-2444702-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.28
- CADD 8.50
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available