P7A (p.Pro7Ala) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
P7A (p.Pro7Ala) 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.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- gnomAD 11-2445117-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.93
- MetaSVM 0.83
- CADD 16.80
- Population evidence available
- Structural context available
- Literature evidence available