R402S (p.Arg402Ser) variant of TUBA1A (Tubulin alpha-1A chain)
R402S (p.Arg402Ser) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tubulinopathy; Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
R402S (p.Arg402Ser) variant details
- p.Arg402Ser
- rs587784483
- ClinGen CA213254
- ClinVar RCV000147797
- ClinVar RCV000767437
- Likely pathogenic
- Tubulinopathy; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.88
- ClinVar: Likely pathogenic (Tubulinopathy; Lissencephaly due to TUBA1A mutation)
- EBI: Pathogenic (in LIS3)
- UniProt: Pathogenic (in LIS3)
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)