A23A (p.Ala23Ala) variant of PSEN2 (Presenilin-2)

Name: PSEN2 A23A (p.Ala23Ala) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-10
License: https://catvariant.com/terms-of-use

A23A (p.Ala23Ala) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.

A23A (p.Ala23Ala) variant details

p.Ala23Ala
rs11405
gnomAD 1-226881976-T-C
Synonymous
Variant Prioritization Score for Impact Estimate 0.0896
CADD 1.27
Most common in the HGDP:BIAKA population (allele frequency 0.93)
Structural context available
Cited in: The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case-control study in Chinese… (PMID 36217304)
Cited in: Genetic Association between Presenilin 2 Polymorphisms and Alzheimer's Disease and Dementia of Lewy Body Type in a… (PMID 27065294)