S5T (p.Ser5Thr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S5T (p.Ser5Thr) 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.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- gnomAD 11-2445111-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.87
- MetaSVM 0.47
- CADD 16.90
- Population evidence available
- Structural context available
- Literature evidence available