R42G (p.Arg42Gly) variant of PSEN1 (Presenilin-1)
R42G (p.Arg42Gly) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Pick disease; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R42G (p.Arg42Gly) variant details
- p.Arg42Gly
- rs140189461
- ClinGen CA7256685
- ClinVar RCV002896115
- ClinVar RCV003777888
- Uncertain significance
- Inborn genetic diseases; Pick disease; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.54
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases; Pick disease; Frontotemporal dementia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)