E126K (p.Glu126Lys) variant of KCNB1 (Q14721)
E126K (p.Glu126Lys) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data.
E126K (p.Glu126Lys) variant details
- p.Glu126Lys
- cosmic curated COSV65567
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.83
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)