S6T (p.Ser6Thr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S6T (p.Ser6Thr) 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.
S6T (p.Ser6Thr) variant details
- p.Ser6Thr
- gnomAD 11-2445114-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.91
- MetaSVM 0.83
- CADD 18.00
- Population evidence available
- Structural context available
- Literature evidence available