R140T (p.Arg140Thr) variant of APP (Amyloid-beta precursor protein)
R140T (p.Arg140Thr) 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 Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R140T (p.Arg140Thr) variant details
- p.Arg140Thr
- rs772020679
- ClinGen CA9987655
- ClinVar RCV003622218
- ExAC rs772020679
- Uncertain significance
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.74
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Alzheimer disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Alzheimer Disease Overview. (PMID 20301340)
- Cited in: EFNS guidelines for the diagnosis and management of Alzheimer's disease. (PMID 20831773)