L20I (p.Leu20Ile) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
L20I (p.Leu20Ile) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L20I (p.Leu20Ile) variant details
- p.Leu20Ile
- gnomAD 11-2444701-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.24
- CADD 4.65
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available