T714I (p.Thr714Ile) variant of APP (Amyloid-beta precursor protein)
T714I (p.Thr714Ile) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
T714I (p.Thr714Ile) variant details
- p.Thr714Ile
- rs63750973
- ClinGen CA127803
- ClinVar RCV000019728
- ClinVar RCV000084569
- Pathogenic
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.81
- MetaLR 0.88
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.09
- EVE 0.72
- ClinVar: Pathogenic (Alzheimer disease)
- EBI: Pathogenic (in AD1)
- UniProt: Pathogenic (in AD1)
- Structural context available
- Cited in: Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for… (PMID 11063718)
- Cited in: An African American family with early-onset Alzheimer disease and an APP (T714I) mutation. (PMID 15668448)