A713T (p.Ala713Thr) variant of APP (Amyloid-beta precursor protein)
A713T (p.Ala713Thr) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Alzheimer disease type 1; Cerebral amyloid angiopathy, APP-related. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A713T (p.Ala713Thr) variant details
- p.Ala713Thr
- rs63750066
- ClinGen CA090906
- ClinVar RCV000019721
- ClinVar RCV000084566
- Likely pathogenic
- not provided; Alzheimer disease type 1; Cerebral amyloid angiopathy, APP-related
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.91
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Alzheimer disease type 1; Cerebral amyloid angiopa)
- EBI: Pathogenic (in AD1)
- UniProt: Pathogenic (in AD1)
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: More missense in amyloid gene. (PMID 1303275)
- Cited in: A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene. (PMID 15365148)