G70R (p.Gly70Arg) variant of PSEN2 (Presenilin-2)
G70R (p.Gly70Arg) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Alzheimer disease 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G70R (p.Gly70Arg) variant details
- p.Gly70Arg
- rs139972151
- ClinGen CA238430
- cosmic curated COSV60919
- ClinVar RCV000172586
- Conflicting interpretations
- not provided; Alzheimer disease 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.46
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (not provided; Alzheimer disease 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5e-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)