G34S (p.Gly34Ser) variant of PSEN2 (Presenilin-2)
G34S (p.Gly34Ser) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Alzheimer disease 4; Dilated cardiomyopathy 1V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G34S (p.Gly34Ser) variant details
- p.Gly34Ser
- rs200636353
- ClinGen CA1424391
- ClinVar RCV000894684
- ClinVar RCV001101118
- Conflicting interpretations
- Alzheimer disease 4; Dilated cardiomyopathy 1V
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.33
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Conflicting classifications of pathogenicity (Alzheimer disease 4; Dilated cardiomyopathy 1V)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)