A921T (p.Ala921Thr) variant of TBCD (Tubulin-specific chaperone D)
A921T (p.Ala921Thr) in TBCD (Tubulin-specific chaperone D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A921T (p.Ala921Thr) variant details
- p.Ala921Thr
- rs886041085
- ClinGen CA10602687
- ClinVar RCV000258913
- UniProt VAR 077976
- Pathogenic
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.62
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Early-onset progressive diffuse brain atrophy-microcephaly-muscl)
- EBI: Pathogenic (in PEBAT)
- UniProt: Pathogenic (in PEBAT)
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. (PMID 27666374)
- Cited in: Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause… (PMID 27666370)