M233V (p.Met233Val) variant of PSEN1 (Presenilin-1)
M233V (p.Met233Val) 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 Frontotemporal dementia; Alzheimer disease 3; Acne inversa, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
M233V (p.Met233Val) variant details
- p.Met233Val
- rs63751287
- ClinGen CA341527
- NCI-TCGA Cosmic COSV5619
- cosmic curated COSV56192
- Pathogenic/Likely pathogenic
- Frontotemporal dementia; Alzheimer disease 3; Acne inversa, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.74
- MetaLR 0.97
- MetaSVM 1.12
- PolyPhen-2 0.63
- SIFT 0.06
- EVE 0.29
- ClinVar: Pathogenic/Likely pathogenic (Frontotemporal dementia; Alzheimer disease 3; Acne inversa, fami)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)