W47G (p.Trp47Gly) variant of PSEN2 (Presenilin-2)
W47G (p.Trp47Gly) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alzheimer disease 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
W47G (p.Trp47Gly) variant details
- p.Trp47Gly
- rs2102668369
- ClinGen CA345329442
- ClinVar RCV001894357
- Ensembl rs2102668369
- Uncertain significance
- Alzheimer disease 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- AlphaMissense 0.08
- MetaLR 0.89
- MetaSVM 0.77
- PolyPhen-2 0.00
- SIFT 0.44
- EVE 0.07
- ClinVar: Uncertain significance (Alzheimer disease 4)
- 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)