Q138R (p.Gln138Arg) variant of APP (Amyloid-beta precursor protein)
Q138R (p.Gln138Arg) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of APP-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
Q138R (p.Gln138Arg) variant details
- p.Gln138Arg
- TOPMed rs1451050785
- gnomAD rs1451050785
- Uncertain significance
- APP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.72
- CADD 25.00
- PolyPhen-2 0.93
- SIFT 0.12
- ClinVar: Uncertain significance (APP-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available