A37D (p.Ala37Asp) variant of CACNB2 (Q08289)
A37D (p.Ala37Asp) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A37D (p.Ala37Asp) variant details
- p.Ala37Asp
- TOPMed rs967518861
- gnomAD rs967518861
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.29
- CADD 21.00
- PolyPhen-2 0.05
- SIFT 0.53
- Most common in the Middle Eastern population (allele frequency 0.00019)
- Structural context available