D5G (p.Asp5Gly) variant of CACNB2 (Q08289)
D5G (p.Asp5Gly) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D5G (p.Asp5Gly) variant details
- p.Asp5Gly
- gnomAD 10-18140750-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.31
- CADD 23.50
- PolyPhen-2 0.86
- SIFT 0.84
- Population evidence available
- Structural context available
- Literature evidence available