p.Pro6delinsGlnTer variant of CACNA1D (Q01668)
p.Pro6delinsGlnTer in CACNA1D (Q01668) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro6delinsGlnTer variant details
- gnomAD 3-53329321-C-CAGT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 26.90
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available