L7del (p.Leu7del) variant of CACNB2 (Q08289)
L7del (p.Leu7del) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L7del (p.Leu7del) variant details
- gnomAD 10-18141196-GACT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 19.30
- Population evidence available
- Structural context available
- Literature evidence available