D5E (p.Asp5Glu) variant of CACNB2 (Q08289)
D5E (p.Asp5Glu) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D5E (p.Asp5Glu) variant details
- p.Asp5Glu
- gnomAD 10-18140751-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.20
- CADD 22.50
- PolyPhen-2 0.79
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available