G26S (p.Gly26Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G26S (p.Gly26Ser) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G26S (p.Gly26Ser) variant details
- p.Gly26Ser
- gnomAD 11-2445174-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.94
- MetaSVM 0.91
- CADD 22.60
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Literature evidence available