L26I (p.Leu26Ile) variant of CACNB2 (Q08289)
L26I (p.Leu26Ile) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L26I (p.Leu26Ile) variant details
- p.Leu26Ile
- gnomAD 10-18140812-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.26
- CADD 22.80
- PolyPhen-2 0.28
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available