E20G (p.Glu20Gly) variant of CACNB2 (Q08289)
E20G (p.Glu20Gly) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E20G (p.Glu20Gly) variant details
- p.Glu20Gly
- gnomAD 10-18140795-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.42
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available