E139V (p.Glu139Val) variant of APP (Amyloid-beta precursor protein)
E139V (p.Glu139Val) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
E139V (p.Glu139Val) variant details
- p.Glu139Val
- ExAC rs746947550
- gnomAD rs746947550
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.96
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available