M233T (p.Met233Thr) variant of PSEN1 (Presenilin-1)
M233T (p.Met233Thr) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Alzheimer disease 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
M233T (p.Met233Thr) variant details
- p.Met233Thr
- rs63751024
- ClinGen CA225093
- ClinVar RCV000084355
- ClinVar RCV001808318
- Pathogenic/Likely pathogenic
- Alzheimer disease 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- AlphaMissense 0.92
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.92
- SIFT 0.00
- EVE 0.40
- ClinVar: Pathogenic/Likely pathogenic (Alzheimer disease 3)
- 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: Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by… (PMID 27930341)