P91Q (p.Pro91Gln) variant of APP (Amyloid-beta precursor protein)
P91Q (p.Pro91Gln) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P91Q (p.Pro91Gln) variant details
- p.Pro91Gln
- rs1394215533
- ClinGen CA409862648
- ClinVar RCV003988314
- TOPMed rs1394215533
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.90
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available