I69V (p.Ile69Val) variant of APP (Amyloid-beta precursor protein)
I69V (p.Ile69Val) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
I69V (p.Ile69Val) variant details
- p.Ile69Val
- rs1428253800
- ClinGen CA410166841
- ClinVar RCV002914426
- TOPMed rs1428253800
- Uncertain significance
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.49
- CADD 19.50
- PolyPhen-2 0.16
- SIFT 0.68
- ClinVar: Uncertain significance (Alzheimer disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)