C14* (p.Cys14Ter) variant of PSEN2 (Presenilin-2)
C14* (p.Cys14Ter) in PSEN2 (Presenilin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C14* (p.Cys14Ter) variant details
- p.Cys14Ter
- gnomAD 1-226881943-AGT-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 26.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available