V193M (p.Val193Met) variant of TUBB3 (Tubulin beta-3 chain)
V193M (p.Val193Met) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V193M (p.Val193Met) variant details
- p.Val193Met
- rs2030404834
- ClinGen CA397474870
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10020
- Pathogenic
- Complex cortical dysplasia with other brain malformations 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.58
- CADD 29.60
- PolyPhen-2 0.84
- SIFT 0.02
- ClinVar: Pathogenic (Complex cortical dysplasia with other brain malformations 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)