A21P (p.Ala21Pro) variant of CACNA1B (Q00975)
A21P (p.Ala21Pro) in CACNA1B (Q00975) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A21P (p.Ala21Pro) variant details
- p.Ala21Pro
- gnomAD 9-137877991-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.561
- CADD 24.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available