R35W (p.Arg35Trp) variant of PSEN1 (Presenilin-1)
R35W (p.Arg35Trp) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alzheimer disease 3; Frontotemporal dementia; Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R35W (p.Arg35Trp) variant details
- p.Arg35Trp
- rs746691776
- ClinGen CA7256673
- cosmic curated COSV99997
- ClinVar RCV005410922
- Uncertain significance
- Alzheimer disease 3; Frontotemporal dementia; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.59
- CADD 24.40
- PolyPhen-2 0.09
- SIFT 0.01
- ClinVar: Uncertain significance (Alzheimer disease 3; Frontotemporal dementia; Pick disease)
- EBI: Variant of uncertain significance (in AD3)
- UniProt: Uncertain significance (in AD3)
- 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)