L7V (p.Leu7Val) variant of APP (Amyloid-beta precursor protein)
L7V (p.Leu7Val) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- rs767211549
- ClinGen CA9987780
- ClinVar RCV001878421
- ExAC rs767211549
- Likely benign
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.30
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.67
- ClinVar: Likely benign (Alzheimer disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Alzheimer Disease Overview. (PMID 20301340)
- Cited in: EFNS guidelines for the diagnosis and management of Alzheimer's disease. (PMID 20831773)