G16S (p.Gly16Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G16S (p.Gly16Ser) 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 0.33 / 1. The record also includes population frequency data and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- Ensembl rs1589884180
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.87
- MetaSVM 0.71
- CADD 15.20
- Population evidence available
- Structural context available