A29R (p.Ala29Arg) variant of CACNA1B (Q00975)
A29R (p.Ala29Arg) in CACNA1B (Q00975) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A29R (p.Ala29Arg) variant details
- p.Ala29Arg
- gnomAD 9-137878013-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available