R41S (p.Arg41Ser) variant of PSEN1 (Presenilin-1)
R41S (p.Arg41Ser) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.71 / 1. The record also includes published literature and structural context.
R41S (p.Arg41Ser) variant details
- p.Arg41Ser
- rs997923176
- ClinGen CA390302549
- ClinVar RCV002711664
- ClinVar RCV006460234
- Uncertain significance
- Alzheimer disease 3; Acne inversa, familial, 3; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 0.16
- MetaLR 0.90
- MetaSVM 0.81
- PolyPhen-2 0.76
- SIFT 0.08
- MutPred 0.20
- ClinVar: Uncertain significance (Alzheimer disease 3; Acne inversa, familial, 3; Pick disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)