A34G (p.Ala34Gly) variant of CACNB2 (Q08289)
A34G (p.Ala34Gly) in CACNB2 (Q08289) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A34G (p.Ala34Gly) variant details
- p.Ala34Gly
- gnomAD 10-18140831-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available