N43N (p.Asn43Asn) variant of PSEN2 (Presenilin-2)
N43N (p.Asn43Asn) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
N43N (p.Asn43Asn) variant details
- p.Asn43Asn
- rs6759
- gnomAD 1-226882036-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.116
- CADD 4.93
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Genetic Association between Presenilin 2 Polymorphisms and Alzheimer's Disease and Dementia of Lewy Body Type in a… (PMID 27065294)
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)