Q29* (p.Gln29Ter) variant of PSEN1 (Presenilin-1)
Q29* (p.Gln29Ter) in PSEN1 (Presenilin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
Q29* (p.Gln29Ter) variant details
- p.Gln29Ter
- gnomAD 14-73148104-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.907
- CADD 41.00
- Population evidence available
- Structural context available
- Literature evidence available