K13E (p.Lys13Glu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
K13E (p.Lys13Glu) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K13E (p.Lys13Glu) variant details
- p.Lys13Glu
- gnomAD 11-2445135-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.90
- MetaSVM 0.73
- CADD 22.90
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available