E4del (p.Glu4del) variant of BBS4 (BBSome complex member BBS4)

Name: BBS4 E4del (p.Glu4del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-22
License: https://catvariant.com/terms-of-use

E4del (p.Glu4del) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.

E4del (p.Glu4del) variant details

gnomAD 15-72686233-TGAG-
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.223
CADD 20.10
Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
Structural context available
Literature evidence available