R390C (p.Arg390Cys) variant of TUBA1A (Tubulin alpha-1A chain)
R390C (p.Arg390Cys) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.65 / 1. The record also includes published literature and structural context.
R390C (p.Arg390Cys) variant details
- p.Arg390Cys
- rs1064793286
- ClinGen CA16619548
- ClinVar RCV000483973
- ClinVar RCV000767411
- Pathogenic/Likely pathogenic
- Tubulinopathy; not provided; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- AlphaMissense 0.80
- MetaLR 0.64
- MetaSVM 0.30
- PolyPhen-2 0.48
- SIFT 0.00
- MutPred 0.67
- ClinVar: Pathogenic/Likely pathogenic (Tubulinopathy; not provided; Lissencephaly due to TUBA1A mutatio)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)