Q116* (p.Gln116Ter) variant of CDH2 (Cadherin-2)
Q116* (p.Gln116Ter) in CDH2 (Cadherin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
Q116* (p.Gln116Ter) variant details
- p.Gln116Ter
- gnomAD rs2013162892
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.921
- CADD 41.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available