Q29R (p.Gln29Arg) variant of PSEN1 (Presenilin-1)
Q29R (p.Gln29Arg) in PSEN1 (Presenilin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q29R (p.Gln29Arg) variant details
- p.Gln29Arg
- gnomAD 14-73148102-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 25.00
- Population evidence available
- Structural context available
- Literature evidence available