p.Ala15 Ala16del variant of CACNB2 (Q08289)
p.Ala15 Ala16del in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala15 Ala16del variant details
- gnomAD 10-18140772-AGCGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 19.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available