A431E (p.Ala431Glu) variant of PSEN1 (Presenilin-1)
A431E (p.Ala431Glu) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alzheimer disease 3; Acne inversa, familial, 3; Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes population frequency data, published literature, and structural context.
A431E (p.Ala431Glu) variant details
- p.Ala431Glu
- rs63750083
- ClinGen CA341492
- ClinVar RCV000019785
- ClinVar RCV000517533
- Pathogenic
- Alzheimer disease 3; Acne inversa, familial, 3; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Alzheimer disease 3; Acne inversa, familial, 3; Pick disease)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Population evidence available
- Structural context available
- Cited in: Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. (PMID 11524469)
- Cited in: Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican… (PMID 16628450)