E20E (p.Glu20Glu) variant of CACNB2 (Q08289)
E20E (p.Glu20Glu) in CACNB2 (Q08289) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E20E (p.Glu20Glu) variant details
- p.Glu20Glu
- rs1046365611
- gnomAD 10-18140796-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.622
- CADD 14.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available