A713V (p.Ala713Val) variant of APP (Amyloid-beta precursor protein)
A713V (p.Ala713Val) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A713V (p.Ala713Val) variant details
- p.Ala713Val
- rs1800557
- ClinGen CA225505
- NCI-TCGA Cosmic COSV6099
- cosmic curated COSV60997
- Conflicting interpretations
- not specified; Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.93
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not specified; Alzheimer disease)
- EBI: Variant of uncertain significance (in one chronic schizophrenia patient)
- UniProt: Uncertain significance (in one chronic schizophrenia patient)
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Mutation in codon 713 of the beta amyloid precursor protein gene presenting with schizophrenia. (PMID 1307241)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)