P11H (p.Pro11His) variant of CACNB2 (Q08289)
P11H (p.Pro11His) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P11H (p.Pro11His) variant details
- p.Pro11His
- gnomAD 10-18140768-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.18
- CADD 22.50
- PolyPhen-2 0.24
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available