Q3L (p.Gln3Leu) variant of CACNB2 (Q08289)
Q3L (p.Gln3Leu) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
Q3L (p.Gln3Leu) variant details
- p.Gln3Leu
- gnomAD 10-18141187-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 19.20
- Population evidence available
- Structural context available
- Literature evidence available