D5H (p.Asp5His) variant of CACNB2 (Q08289)
D5H (p.Asp5His) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D5H (p.Asp5His) variant details
- p.Asp5His
- gnomAD 10-18140749-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.31
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available