R390H (p.Arg390His) variant of TUBA1A (Tubulin alpha-1A chain)
R390H (p.Arg390His) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tubulinopathy; not provided; Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
R390H (p.Arg390His) variant details
- p.Arg390His
- rs1064796460
- ClinGen CA384635115
- NCI-TCGA Cosmic COSV5549
- cosmic curated COSV55498
- Pathogenic
- Tubulinopathy; not provided; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- AlphaMissense 0.62
- MetaLR 0.62
- MetaSVM 0.16
- PolyPhen-2 0.07
- SIFT 0.00
- MutPred 0.67
- ClinVar: Pathogenic (Tubulinopathy; not provided; Lissencephaly due to TUBA1A mutatio)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)