E13R (p.Glu13Arg) variant of TBCD (Tubulin-specific chaperone D)

Name: TBCD E13R (p.Glu13Arg) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-06-12
License: https://catvariant.com/terms-of-use

E13R (p.Glu13Arg) in TBCD (Tubulin-specific chaperone D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.

E13R (p.Glu13Arg) variant details

p.Glu13Arg
gnomAD 17-82752225-G-GC
Frameshift
Variant Prioritization Score for Impact Estimate 0.316
CADD 22.60
Most common in the Non-Finnish European population (allele frequency 1.5e-05)
Structural context available
Literature evidence available