L35H (p.Leu35His) variant of CACNB2 (Q08289)
L35H (p.Leu35His) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L35H (p.Leu35His) variant details
- p.Leu35His
- gnomAD 10-18140840-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.28
- CADD 23.20
- PolyPhen-2 0.50
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available