G18S (p.Gly18Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G18S (p.Gly18Ser) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G18S (p.Gly18Ser) variant details
- p.Gly18Ser
- gnomAD 11-2445150-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.90
- MetaSVM 0.50
- CADD 21.20
- Population evidence available
- Structural context available
- Literature evidence available