E19Q (p.Glu19Gln) variant of KCNB1 (Q14721)
E19Q (p.Glu19Gln) 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 0.53 / 1. The record also includes population frequency data.
E19Q (p.Glu19Gln) variant details
- p.Glu19Gln
- rs976018808
- NCI-TCGA Cosmic COSV1008
- NCI-TCGA Cosmic COSV6556
- cosmic curated COSV65569
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.44
- CADD 24.30
- PolyPhen-2 0.81
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available