E54D (p.Glu54Asp) variant of PSEN2 (Presenilin-2)
E54D (p.Glu54Asp) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Alzheimer disease 4; Dilated cardiomyopathy 1V; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- rs146894466
- ClinGen CA1424429
- ClinVar RCV001488849
- ClinVar RCV002507535
- Benign/Likely benign
- Alzheimer disease 4; Dilated cardiomyopathy 1V; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.40
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Benign/Likely benign (Alzheimer disease 4; Dilated cardiomyopathy 1V; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)