S5F (p.Ser5Phe) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S5F (p.Ser5Phe) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- gnomAD 11-2445112-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.90
- MetaSVM 0.70
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available