Q79* (p.Gln79Ter) variant of CACNA2D2 (Q9NY47)
Q79* (p.Gln79Ter) in CACNA2D2 (Q9NY47) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
Q79* (p.Gln79Ter) variant details
- p.Gln79Ter
- rs2471250712
- ClinGen CA353002614
- ClinVar RCV006559582
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available