R180* (p.Arg180Ter) variant of APP (Amyloid-beta precursor protein)
R180* (p.Arg180Ter) in APP (Amyloid-beta precursor protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R180* (p.Arg180Ter) variant details
- p.Arg180Ter
- cosmic curated COSV60999
- ExAC rs753562272
- gnomAD rs753562272
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available