I21M (p.Ile21Met) variant of CACNB2 (Q08289)
I21M (p.Ile21Met) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
I21M (p.Ile21Met) variant details
- p.Ile21Met
- rs2030355938
- gnomAD 10-18141215-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 19.40
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available