Q50R (p.Gln50Arg) variant of PSEN2 (Presenilin-2)
Q50R (p.Gln50Arg) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Alzheimer disease 4; Dilated cardiomyopathy 1V; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q50R (p.Gln50Arg) variant details
- p.Gln50Arg
- rs143501870
- ClinGen CA346593
- ClinVar RCV000157425
- ClinVar RCV001097368
- Conflicting interpretations
- Alzheimer disease 4; Dilated cardiomyopathy 1V; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.41
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Conflicting classifications of pathogenicity (Alzheimer disease 4; Dilated cardiomyopathy 1V; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)