p.Ala18dup variant of CACNB2 (Q08289)
p.Ala18dup in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala18dup variant details
- rs764468808
- gnomAD 10-18140786-T-TGG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.229
- CADD 21.00
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available
- Literature evidence available