T18M (p.Thr18Met) variant of PSEN2 (Presenilin-2)
T18M (p.Thr18Met) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Alzheimer disease 4; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
T18M (p.Thr18Met) variant details
- p.Thr18Met
- rs143061887
- ClinGen CA1424373
- cosmic curated COSV10522
- ClinVar RCV001263187
- Uncertain significance
- not provided; Alzheimer disease 4; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.56
- CADD 24.70
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Alzheimer disease 4; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)