N32S (p.Asn32Ser) variant of PSEN1 (Presenilin-1)
N32S (p.Asn32Ser) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Frontotemporal dementia; Pick disease; Alzheimer disease 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
N32S (p.Asn32Ser) variant details
- p.Asn32Ser
- rs200824179
- ClinGen CA7256670
- ClinVar RCV003324115
- ClinVar RCV003777345
- Conflicting interpretations
- Frontotemporal dementia; Pick disease; Alzheimer disease 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.38
- CADD 0.11
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Conflicting classifications of pathogenicity (Frontotemporal dementia; Pick disease; Alzheimer disease 3)
- EBI: Likely benign
- UniProt: Likely benign
- 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)