L35F (p.Leu35Phe) variant of CACNB2 (Q08289)
L35F (p.Leu35Phe) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L35F (p.Leu35Phe) variant details
- p.Leu35Phe
- gnomAD 10-18140839-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.27
- CADD 22.40
- PolyPhen-2 0.40
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available