V20I (p.Val20Ile) variant of APP (Amyloid-beta precursor protein)
V20I (p.Val20Ile) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar 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 0.53 / 1. The record also includes population frequency data and structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- ESP rs140350218
- ExAC rs140350218
- gnomAD rs140350218
- Benign/Likely benign
- not specified; Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.38
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Benign/Likely benign (not specified; Alzheimer disease)
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available