P8T (p.Pro8Thr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
P8T (p.Pro8Thr) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- gnomAD 11-2445120-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.91
- MetaSVM 0.79
- CADD 17.60
- Population evidence available
- Structural context available
- Literature evidence available