R42Q (p.Arg42Gln) variant of PSEN1 (Presenilin-1)
R42Q (p.Arg42Gln) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pick disease; Acne inversa, familial, 3; Alzheimer disease 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.
R42Q (p.Arg42Gln) variant details
- p.Arg42Gln
- rs367775281
- ClinGen CA7256686
- cosmic curated COSV10876
- ClinVar RCV001120059
- Uncertain significance
- Pick disease; Acne inversa, familial, 3; Alzheimer disease 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.53
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Pick disease; Acne inversa, familial, 3; Alzheimer disease 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)