A16A (p.Ala16Ala) variant of CACNB2 (Q08289)
A16A (p.Ala16Ala) in CACNB2 (Q08289) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A16A (p.Ala16Ala) variant details
- p.Ala16Ala
- rs776286531
- gnomAD 10-18140784-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 14.90
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available