D28E (p.Asp28Glu) variant of KCNQ2 (O43526)
D28E (p.Asp28Glu) in KCNQ2 (O43526) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D28E (p.Asp28Glu) variant details
- p.Asp28Glu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.29
- CADD 20.80
- PolyPhen-2 0.02
- SIFT 0.49
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available