R29C (p.Arg29Cys) variant of PSEN2 (Presenilin-2)
R29C (p.Arg29Cys) 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; not provided; Alzheimer disease 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R29C (p.Arg29Cys) variant details
- p.Arg29Cys
- rs142892469
- ClinGen CA1424387
- ClinVar RCV001985484
- ClinVar RCV002484755
- Uncertain significance
- not specified; not provided; Alzheimer disease 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.40
- CADD 22.90
- PolyPhen-2 0.63
- SIFT 0.06
- ClinVar: Uncertain significance (not specified; not provided; Alzheimer disease 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)