A17S (p.Ala17Ser) variant of APP (Amyloid-beta precursor protein)
A17S (p.Ala17Ser) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- ExAC rs762505107
- TOPMed rs762505107
- gnomAD rs762505107
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.30
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available