M146L (p.Met146Leu) variant of PSEN1 (Presenilin-1)
M146L (p.Met146Leu) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Frontotemporal dementia; Alzheimer disease 3; Acne inversa, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
M146L (p.Met146Leu) variant details
- p.Met146Leu
- rs63750306
- ClinGen CA341490
- ClinVar RCV000019751
- ClinVar RCV001248367
- Pathogenic
- Frontotemporal dementia; Alzheimer disease 3; Acne inversa, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.95
- AlphaMissense 0.52
- MetaLR 0.98
- MetaSVM 1.06
- CADD 25.90
- PolyPhen-2 0.98
- ClinVar: Pathogenic (Pick disease)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. (PMID 10441572)
- Cited in: Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. (PMID 11524469)