R180Q (p.Arg180Gln) variant of APP (Amyloid-beta precursor protein)
R180Q (p.Arg180Gln) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R180Q (p.Arg180Gln) variant details
- p.Arg180Gln
- cosmic curated COSV60997
- ExAC rs200898059
- TOPMed rs200898059
- gnomAD rs200898059
- Uncertain significance
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.82
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Alzheimer disease)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available