R54Q (p.Arg54Gln) variant of PSEN1 (Presenilin-1)
R54Q (p.Arg54Gln) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Alzheimer disease 3; Acne inversa, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R54Q (p.Arg54Gln) variant details
- p.Arg54Gln
- rs201216284
- ClinGen CA7256690
- ClinVar RCV001392197
- ClinVar RCV005712504
- Conflicting interpretations
- Inborn genetic diseases; Alzheimer disease 3; Acne inversa, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.49
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Alzheimer disease 3; Acne inversa, fami)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)