E20K (p.Glu20Lys) variant of CACNB2 (Q08289)
E20K (p.Glu20Lys) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- gnomAD rs1422234805
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.43
- CADD 24.20
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available