E19D (p.Glu19Asp) variant of KCNB1 (Q14721)
E19D (p.Glu19Asp) in KCNB1 (Q14721) 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 0.36 / 1. The record also includes population frequency data.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.22
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available