M23V (p.Met23Val) variant of CACNB2 (Q08289)
M23V (p.Met23Val) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
M23V (p.Met23Val) variant details
- p.Met23Val
- gnomAD 10-18140803-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.25
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available