M139V (p.Met139Val) variant of PSEN1 (Presenilin-1)
M139V (p.Met139Val) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Acne inversa, familial, 3; Frontotemporal dementia; Alzheimer disease 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
M139V (p.Met139Val) variant details
- p.Met139Val
- rs63751037
- ClinGen CA225015
- ClinVar RCV000019756
- ClinVar RCV000084304
- Pathogenic
- Acne inversa, familial, 3; Frontotemporal dementia; Alzheimer disease 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- AlphaMissense 0.83
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.17
- ClinVar: Pathogenic (Acne inversa, familial, 3; Frontotemporal dementia; Alzheimer di)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four… (PMID 10631141)
- Cited in: Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia. (PMID 12810495)