W115* (p.Trp115Ter) variant of CDH2 (Cadherin-2)
W115* (p.Trp115Ter) in CDH2 (Cadherin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
W115* (p.Trp115Ter) variant details
- p.Trp115Ter
- rs2510818669
- ClinGen CA402244194
- ClinVar RCV003152213
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.867
- CADD 38.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available