L25Q (p.Leu25Gln) variant of CACNB2 (Q08289)
L25Q (p.Leu25Gln) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L25Q (p.Leu25Gln) variant details
- p.Leu25Gln
- gnomAD 10-18141205-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 20.30
- Population evidence available
- Structural context available
- Literature evidence available