R54* (p.Arg54Ter) variant of PSEN1 (Presenilin-1)
R54* (p.Arg54Ter) in PSEN1 (Presenilin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R54* (p.Arg54Ter) variant details
- p.Arg54Ter
- gnomAD 14-73170869-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 34.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available