C65Y (p.Cys65Tyr) variant of PSEN2 (Presenilin-2)
C65Y (p.Cys65Tyr) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Alzheimer disease 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
C65Y (p.Cys65Tyr) variant details
- p.Cys65Tyr
- rs766446160
- ClinGen CA1424433
- ClinVar RCV003510438
- ClinVar RCV005419641
- Uncertain significance
- not specified; Alzheimer disease 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.43
- CADD 17.30
- PolyPhen-2 0.16
- SIFT 0.04
- ClinVar: Uncertain significance (not specified; Alzheimer disease 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- 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)