E24D (p.Glu24Asp) variant of CACNB2 (Q08289)
E24D (p.Glu24Asp) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- gnomAD 10-18140808-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.22
- CADD 9.73
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available