R391L (p.Arg391Leu) variant of TUBB3 (Tubulin beta-3 chain)
R391L (p.Arg391Leu) 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 not provided; Complex cortical dysplasia with other brain malformations 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
R391L (p.Arg391Leu) variant details
- p.Arg391Leu
- rs886039497
- ClinGen CA10588636
- ClinVar RCV000254819
- ClinVar RCV005895444
- Pathogenic
- not provided; Complex cortical dysplasia with other brain malformations 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- AlphaMissense 0.97
- MetaLR 0.80
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (not provided; Complex cortical dysplasia with other brain malfor)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)