A302V (p.Ala302Val) variant of TUBB3 (Tubulin beta-3 chain)
A302V (p.Ala302Val) 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 Complex cortical dysplasia with other brain malformations 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
A302V (p.Ala302Val) variant details
- p.Ala302Val
- rs878853258
- ClinGen CA10575550
- ClinVar RCV000023205
- UniProt VAR 066208
- Pathogenic
- Complex cortical dysplasia with other brain malformations 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 0.98
- MetaLR 0.81
- MetaSVM 0.93
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (Complex cortical dysplasia with other brain malformations 1)
- EBI: Pathogenic (in CDCBM1)
- UniProt: Pathogenic (in CDCBM1)
- 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)