A15E (p.Ala15Glu) variant of CACNB2 (Q08289)
A15E (p.Ala15Glu) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A15E (p.Ala15Glu) variant details
- p.Ala15Glu
- gnomAD 10-18140780-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.54
- CADD 21.30
- PolyPhen-2 0.06
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available