E19K (p.Glu19Lys) variant of KCNB1 (Q14721)
E19K (p.Glu19Lys) 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 0.58 / 1. The record also includes population frequency data.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10087
- NCI-TCGA Cosmic COSV6556
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.52
- CADD 24.90
- PolyPhen-2 0.43
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.3e-05)