A16E (p.Ala16Glu) variant of CACNB2 (Q08289)
A16E (p.Ala16Glu) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A16E (p.Ala16Glu) variant details
- p.Ala16Glu
- gnomAD 10-18140783-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.42
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available