A79V (p.Ala79Val) variant of PSEN1 (Presenilin-1)
A79V (p.Ala79Val) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A79V (p.Ala79Val) variant details
- p.Ala79Val
- rs63749824
- ClinGen CA224983
- ClinVar RCV000019787
- ClinVar RCV000084281
- Pathogenic
- Frontotemporal dementia; Alzheimer disease 3; Acne inversa, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.96
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Frontotemporal dementia; Alzheimer disease 3; Acne inversa, fami)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Most common in the South Asian population (allele frequency 0.00044)
- 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: Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. (PMID 11524469)