I63V (p.Ile63Val) variant of APP (Amyloid-beta precursor protein)
I63V (p.Ile63Val) 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 APP-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
I63V (p.Ile63Val) variant details
- p.Ile63Val
- rs779329120
- ClinGen CA319565274
- ClinVar RCV003402157
- TOPMed rs779329120
- Uncertain significance
- APP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- AlphaMissense 0.08
- MetaLR 0.70
- MetaSVM 0.25
- PolyPhen-2 0.01
- SIFT 0.20
- EVE 0.26
- ClinVar: Uncertain significance (APP-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available