R62C (p.Arg62Cys) variant of PSEN2 (Presenilin-2)
R62C (p.Arg62Cys) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R62C (p.Arg62Cys) variant details
- p.Arg62Cys
- rs150400387
- ClinGen CA1424432
- ClinVar RCV000687794
- ClinVar RCV001584558
- Uncertain significance
- not specified; not provided; Alzheimer disease 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.40
- CADD 23.40
- PolyPhen-2 0.51
- SIFT 0.02
- ClinVar: Uncertain significance (not specified; not provided; Alzheimer disease 4)
- EBI: Variant of uncertain significance (in AD4)
- UniProt: Uncertain significance (in AD4)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)