R22G (p.Arg22Gly) variant of CACNA1B (Q00975)
R22G (p.Arg22Gly) in CACNA1B (Q00975) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R22G (p.Arg22Gly) variant details
- p.Arg22Gly
- gnomAD 9-137877994-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 24.90
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available