D40del (p.Asp40del) variant of PSEN1 (Presenilin-1)

Name: PSEN1 D40del (p.Asp40del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-10
License: https://catvariant.com/terms-of-use

D40del (p.Asp40del) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.

D40del (p.Asp40del) variant details

rs759538127
gnomAD 14-73170824-AACG-
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.183
CADD 14.40
Most common in the Non-Finnish European population (allele frequency 1.5e-05)
Structural context available
Literature evidence available