E24K (p.Glu24Lys) variant of CACNB2 (Q08289)
E24K (p.Glu24Lys) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- gnomAD rs1444039882
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.28
- CADD 24.90
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available