A475T (p.Ala475Thr) variant of TBCD (Tubulin-specific chaperone D)
A475T (p.Ala475Thr) in TBCD (Tubulin-specific chaperone D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Early-onset progressive diffuse brain atrophy-microcephaly-muscle. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A475T (p.Ala475Thr) variant details
- p.Ala475Thr
- rs775014444
- ClinGen CA8862558
- NCI-TCGA Cosmic COSV6280
- cosmic curated COSV62804
- Pathogenic/Likely pathogenic
- not provided; Early-onset progressive diffuse brain atrophy-microcephaly-muscle
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.67
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Early-onset progressive diffuse brain atrophy-micr)
- EBI: Pathogenic (in PEBAT)
- UniProt: Pathogenic (in PEBAT)
- Most common in the HGDP:MBUTI population (allele frequency 0.96)
- Structural context available
- Cited in: Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of… (PMID 27807845)
- Cited in: Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer… (PMID 28158450)