I176V (p.Ile176Val) variant of APP (Amyloid-beta precursor protein)
I176V (p.Ile176Val) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
I176V (p.Ile176Val) variant details
- p.Ile176Val
- TOPMed rs1205098782
- gnomAD rs1205098782
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.52
- CADD 21.10
- PolyPhen-2 0.03
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available