K13Q (p.Lys13Gln) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
K13Q (p.Lys13Gln) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K13Q (p.Lys13Gln) variant details
- p.Lys13Gln
- gnomAD 11-2445135-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.93
- MetaSVM 0.85
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available