A18A (p.Ala18Ala) variant of CACNB2 (Q08289)
A18A (p.Ala18Ala) in CACNB2 (Q08289) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- rs1444080173
- gnomAD 10-18140790-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 15.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available