K13M (p.Lys13Met) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
K13M (p.Lys13Met) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K13M (p.Lys13Met) variant details
- p.Lys13Met
- gnomAD 11-2445136-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.30
- MetaLR 0.94
- MetaSVM 0.90
- CADD 24.40
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available