p.Ala16dup variant of CACNB2 (Q08289)
p.Ala16dup 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.Ala16dup variant details
- rs759384990
- gnomAD 10-18140772-A-AGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 19.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 4e-05)
- Structural context available
- Literature evidence available