P7T (p.Pro7Thr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
P7T (p.Pro7Thr) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- gnomAD 11-2445117-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.93
- MetaSVM 0.84
- CADD 21.30
- Population evidence available
- Structural context available
- Literature evidence available