R102del (p.Arg102del) variant of NIPBL (Nipped-B-like protein)

Name: NIPBL R102del (p.Arg102del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

R102del (p.Arg102del) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.

R102del (p.Arg102del) variant details

gnomAD 5-36958175-CAAG-C
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.627
CADD 20.60
Most common in the Non-Finnish European population (allele frequency 1.8e-06)
Structural context available
Literature evidence available