R9M (p.Arg9Met) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R9M (p.Arg9Met) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R9M (p.Arg9Met) variant details
- p.Arg9Met
- gnomAD 11-2445124-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.38
- ESM-1b 0.18
- AlphaMissense 0.27
- MetaLR 0.91
- MetaSVM 0.91
- CADD 19.50
- Population evidence available
- Structural context available
- Literature evidence available