M23I (p.Met23Ile) variant of CACNB2 (Q08289)
M23I (p.Met23Ile) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
M23I (p.Met23Ile) variant details
- p.Met23Ile
- gnomAD 10-18140805-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.16
- CADD 24.40
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available