S230L (p.Ser230Leu) variant of TUBB3 (Tubulin beta-3 chain)
S230L (p.Ser230Leu) 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 0.71 / 1. The record also includes published literature and structural context.
S230L (p.Ser230Leu) variant details
- p.Ser230Leu
- rs886041459
- ClinGen CA10603568
- ClinVar RCV000386583
- ClinVar RCV001526950
- Pathogenic/Likely pathogenic
- not provided; Complex cortical dysplasia with other brain malformations 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- AlphaMissense 0.98
- MetaLR 0.57
- MetaSVM 0.38
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic/Likely pathogenic (not provided; Complex cortical dysplasia with other brain malfor)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)