A260G (p.Ala260Gly) variant of PSEN1 (Presenilin-1)
A260G (p.Ala260Gly) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Alzheimer disease 3; Frontotemporal dementia; Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A260G (p.Ala260Gly) variant details
- p.Ala260Gly
- rs63751420
- ClinGen CA390301923
- ClinVar RCV003482814
- ClinVar RCV003779232
- Conflicting interpretations
- Alzheimer disease 3; Frontotemporal dementia; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.97
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Alzheimer disease 3; Frontotemporal dementia; Pick disease)
- EBI: Likely pathogenic (in AD3)
- UniProt: Likely pathogenic (in AD3)
- Most common in the African/African-American population (allele frequency 2.8e-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)