T27M (p.Thr27Met) variant of PSEN2 (Presenilin-2)
T27M (p.Thr27Met) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alzheimer disease 4; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
T27M (p.Thr27Met) variant details
- p.Thr27Met
- rs149354305
- ClinGen CA1424382
- cosmic curated COSV60918
- ClinVar RCV001060794
- Uncertain significance
- Alzheimer disease 4; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.32
- CADD 8.49
- PolyPhen-2 0.21
- SIFT 0.07
- ClinVar: Uncertain significance (Alzheimer disease 4; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)