S5P (p.Ser5Pro) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S5P (p.Ser5Pro) 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.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- gnomAD 11-2445111-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.89
- MetaSVM 0.64
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available