T714A (p.Thr714Ala) variant of APP (Amyloid-beta precursor protein)
T714A (p.Thr714Ala) 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 type 1; Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
T714A (p.Thr714Ala) variant details
- p.Thr714Ala
- rs63750643
- ClinGen CA127814
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61005
- Pathogenic
- Alzheimer disease type 1; Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 0.26
- MetaLR 0.81
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.48
- ClinVar: Pathogenic (Alzheimer disease type 1; Alzheimer disease)
- EBI: Pathogenic (in AD1)
- UniProt: Pathogenic (in AD1)
- Structural context available
- Cited in: An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). (PMID 12034808)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)