W47* (p.Trp47Ter) variant of PSEN2 (Presenilin-2)
W47* (p.Trp47Ter) in PSEN2 (Presenilin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
W47* (p.Trp47Ter) variant details
- p.Trp47Ter
- rs1412682521
- ClinGen CA345329443
- ClinVar RCV002248138
- TOPMed rs1412682521
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 44.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available