R60W (p.Arg60Trp) variant of PSEN1 (Presenilin-1)
R60W (p.Arg60Trp) 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; Acne inversa, familial, 3; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R60W (p.Arg60Trp) variant details
- p.Arg60Trp
- rs777427451
- ClinGen CA7256694
- ClinVar RCV001296368
- ExAC rs777427451
- Uncertain significance
- Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.38
- CADD 16.60
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)