p.Ala29 Gly31del variant of CACNA1B (Q00975)
p.Ala29 Gly31del in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala29 Gly31del variant details
- rs1408014289
- gnomAD 9-137878001-GCGGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 19.50
- Most common in the Latino/Admixed American population (allele frequency 0.00015)
- Structural context available
- Literature evidence available