A18E (p.Ala18Glu) variant of CACNB2 (Q08289)
A18E (p.Ala18Glu) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- gnomAD 10-18140789-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.36
- CADD 20.10
- PolyPhen-2 0.06
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available