E89del (p.Glu89del) variant of NIPBL (Nipped-B-like protein)

Name: NIPBL E89del (p.Glu89del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

E89del (p.Glu89del) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.

E89del (p.Glu89del) variant details

rs1741186913
gnomAD 5-36958136-CAGA-C
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.736
CADD 22.20
Most common in the East Asian population (allele frequency 2.5e-05)
Structural context available
Literature evidence available