V255I (p.Val255Ile) variant of TUBB3 (Tubulin beta-3 chain)
V255I (p.Val255Ile) 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 Inborn genetic diseases; not provided; Complex cortical dysplasia with other bra. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V255I (p.Val255Ile) variant details
- p.Val255Ile
- rs1057517908
- ClinGen CA16043005
- cosmic curated COSV59247
- ClinVar RCV000412886
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Complex cortical dysplasia with other bra
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.49
- CADD 26.10
- PolyPhen-2 0.52
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Complex cortical dysplasi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)