M388V (p.Met388Val) variant of TUBB3 (Tubulin beta-3 chain)
M388V (p.Met388Val) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Complex cortical dysplasia with other brain malformations 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
M388V (p.Met388Val) variant details
- p.Met388Val
- rs878853279
- ClinGen CA10581578
- ClinVar RCV000225239
- ClinVar RCV001782715
- Pathogenic/Likely pathogenic
- not provided; Complex cortical dysplasia with other brain malformations 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- AlphaMissense 0.99
- MetaLR 0.68
- MetaSVM 0.27
- PolyPhen-2 0.01
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic/Likely pathogenic (not provided; Complex cortical dysplasia with other brain malfor)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including… (PMID 25059107)
- Cited in: Tubulinopathies Overview. (PMID 27010057)