R29del (p.Arg29del) variant of CACNA1E (Q15878)
R29del (p.Arg29del) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R29del (p.Arg29del) variant details
- gnomAD 1-181413230-CAGG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.40
- Most common in the Non-Finnish European population (allele frequency 0.0045)
- Structural context available
- Literature evidence available