P78S (p.Pro78Ser) variant of APP (Amyloid-beta precursor protein)
P78S (p.Pro78Ser) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P78S (p.Pro78Ser) variant details
- p.Pro78Ser
- ExAC rs770493889
- TOPMed rs770493889
- gnomAD rs770493889
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.81
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available