A302T (p.Ala302Thr) variant of TUBB3 (Tubulin beta-3 chain)
A302T (p.Ala302Thr) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Fibrosis of extraocular muscles, congenital, 3A, with or without e. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A302T (p.Ala302Thr) variant details
- p.Ala302Thr
- rs267607163
- ClinGen CA340620
- NCI-TCGA Cosmic COSV5924
- cosmic curated COSV59248
- Pathogenic
- not provided; Fibrosis of extraocular muscles, congenital, 3A, with or without e
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.87
- AlphaMissense 0.96
- MetaLR 0.77
- MetaSVM 0.77
- CADD 29.30
- PolyPhen-2 0.99
- ClinVar: Pathogenic (not provided; Fibrosis of extraocular muscles, congenital, 3A, w)
- EBI: Pathogenic (in CFEOM3A)
- UniProt: Pathogenic (in CFEOM3A)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. (PMID 20074521)
- Cited in: Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration… (PMID 20829227)