M139T (p.Met139Thr) variant of PSEN1 (Presenilin-1)
M139T (p.Met139Thr) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Alzheimer disease 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
M139T (p.Met139Thr) variant details
- p.Met139Thr
- rs63751106
- ClinGen CA225016
- ClinVar RCV000084305
- ClinVar RCV001290408
- Pathogenic
- not provided; Alzheimer disease 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (not provided; Alzheimer disease 3)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. (PMID 10441572)
- Cited in: Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. (PMID 8634712)