A30A (p.Ala30Ala) variant of CACNB2 (Q08289)
A30A (p.Ala30Ala) in CACNB2 (Q08289) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A30A (p.Ala30Ala) variant details
- p.Ala30Ala
- gnomAD 10-18140826-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 14.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available