G56S (p.Gly56Ser) variant of PSEN2 (Presenilin-2)
G56S (p.Gly56Ser) 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 specified; not provided; Alzheimer disease 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G56S (p.Gly56Ser) variant details
- p.Gly56Ser
- rs188598190
- ClinGen CA237501
- cosmic curated COSV10042
- ClinVar RCV000172098
- Conflicting interpretations
- not specified; not provided; Alzheimer disease 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.37
- CADD 8.24
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Alzheimer disease 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)