R9S (p.Arg9Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R9S (p.Arg9Ser) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- gnomAD 11-2445125-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.88
- MetaSVM 0.59
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available