P21S (p.Pro21Ser) variant of APP (Amyloid-beta precursor protein)
P21S (p.Pro21Ser) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- TOPMed rs1482948530
- gnomAD rs1482948530
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.44
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available