A16del (p.Ala16del) variant of CACNB2 (Q08289)
A16del (p.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.
A16del (p.Ala16del) variant details
- rs759384990
- gnomAD 10-18140772-AGCG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 19.40
- Most common in the Latino/Admixed American population (allele frequency 7.1e-05)
- Structural context available
- Literature evidence available