A23P (p.Ala23Pro) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A23P (p.Ala23Pro) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A23P (p.Ala23Pro) variant details
- p.Ala23Pro
- gnomAD 11-2445165-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.86
- MetaSVM 0.40
- CADD 15.70
- Population evidence available
- Structural context available
- Literature evidence available