H44Y (p.His44Tyr) variant of APP (Amyloid-beta precursor protein)
H44Y (p.His44Tyr) 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 Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
H44Y (p.His44Tyr) variant details
- p.His44Tyr
- rs774281569
- ClinGen CA9987747
- ClinVar RCV002005546
- ExAC rs774281569
- Uncertain significance
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.94
- CADD 27.40
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Alzheimer disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Alzheimer Disease Overview. (PMID 20301340)
- Cited in: EFNS guidelines for the diagnosis and management of Alzheimer's disease. (PMID 20831773)