A23S (p.Ala23Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A23S (p.Ala23Ser) 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, published literature, and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- gnomAD 11-2445165-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.83
- MetaSVM 0.32
- CADD 8.38
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Literature evidence available