D55E (p.Asp55Glu) variant of PSEN2 (Presenilin-2)
D55E (p.Asp55Glu) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alzheimer disease 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D55E (p.Asp55Glu) variant details
- p.Asp55Glu
- rs139332886
- ClinGen CA345329517
- ClinVar RCV003620352
- ESP rs139332886
- Uncertain significance
- Alzheimer disease 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.43
- CADD 1.44
- PolyPhen-2 0.02
- SIFT 0.54
- ClinVar: Uncertain significance (Alzheimer disease 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)