P12T (p.Pro12Thr) variant of KCNQ2 (O43526)
P12T (p.Pro12Thr) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- gnomAD rs867696324
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.50
- CADD 25.10
- PolyPhen-2 0.80
- SIFT 0.01
- Population evidence available
- Structural context available