E20Q (p.Glu20Gln) variant of CACNB2 (Q08289)
E20Q (p.Glu20Gln) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E20Q (p.Glu20Gln) variant details
- p.Glu20Gln
- gnomAD rs1422234805
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.30
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available