D5A (p.Asp5Ala) variant of CACNB2 (Q08289)
D5A (p.Asp5Ala) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
D5A (p.Asp5Ala) variant details
- p.Asp5Ala
- rs1588525544
- gnomAD 10-18141202-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available