V715M (p.Val715Met) variant of APP (Amyloid-beta precursor protein)
V715M (p.Val715Met) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Alzheimer disease type 1; Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
V715M (p.Val715Met) variant details
- p.Val715Met
- rs63750734
- ClinGen CA127800
- ClinVar RCV000019724
- ClinVar RCV000084570
- Pathogenic/Likely pathogenic
- not provided; Alzheimer disease type 1; Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 0.48
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic/Likely pathogenic (not provided; Alzheimer disease type 1; Alzheimer disease)
- EBI: Pathogenic (in AD1)
- UniProt: Pathogenic (in AD1)
- Structural context available
- Cited in: Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met… (PMID 10097173)
- Cited in: Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. (PMID 10441572)