V153I (p.Val153Ile) variant of APP (Amyloid-beta precursor protein)
V153I (p.Val153Ile) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar 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 0.58 / 1. The record also includes population frequency data and structural context.
V153I (p.Val153Ile) variant details
- p.Val153Ile
- rs201454946
- ExAC rs201454946
- TOPMed rs201454946
- gnomAD rs201454946
- Uncertain significance
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.47
- CADD 22.50
- PolyPhen-2 0.17
- SIFT 0.12
- ClinVar: Uncertain significance (Alzheimer disease)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available