A231T (p.Ala231Thr) variant of PSEN1 (Presenilin-1)
A231T (p.Ala231Thr) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alzheimer disease 3; Dilated cardiomyopathy 1U; Acne inversa, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
A231T (p.Ala231Thr) variant details
- p.Ala231Thr
- rs63749836
- ClinGen CA225090
- ClinVar RCV000084352
- ClinVar RCV000763347
- Likely pathogenic
- Alzheimer disease 3; Dilated cardiomyopathy 1U; Acne inversa, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 0.81
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (Alzheimer disease 3; Dilated cardiomyopathy 1U; Acne inversa, fa)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- 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)