M139K (p.Met139Lys) variant of PSEN1 (Presenilin-1)
M139K (p.Met139Lys) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Alzheimer disease 3; Pick disease; Acne inversa, familial, 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.
M139K (p.Met139Lys) variant details
- p.Met139Lys
- rs63751106
- UniProt VAR 010122
- Ensembl rs63751106
- Pathogenic/Likely pathogenic
- Alzheimer disease 3; Pick disease; Acne inversa, familial, 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/Likely pathogenic (Alzheimer disease 3; Pick disease; Acne inversa, familial, 3)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French… (PMID 9719376)
- Cited in: A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures. (PMID 10025789)