V76I (p.Val76Ile) variant of APP (Amyloid-beta precursor protein)
V76I (p.Val76Ile) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V76I (p.Val76Ile) variant details
- p.Val76Ile
- rs151188448
- ClinGen CA9987709
- ClinVar RCV001664518
- ClinVar RCV002064847
- Benign/Likely benign
- not specified; Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.51
- CADD 25.20
- PolyPhen-2 0.92
- SIFT 0.20
- ClinVar: Benign/Likely benign (not specified; Alzheimer disease)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)