R20R (p.Arg20Arg) variant of CACNA1B (Q00975)
R20R (p.Arg20Arg) in CACNA1B (Q00975) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R20R (p.Arg20Arg) variant details
- p.Arg20Arg
- gnomAD 9-137877991-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 13.90
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available