R402C (p.Arg402Cys) variant of TUBA1A (Tubulin alpha-1A chain)
R402C (p.Arg402Cys) 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 not provided; Lissencephaly due to TUBA1A mutation; Autosomal recessive limb-gir. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
R402C (p.Arg402Cys) variant details
- p.Arg402Cys
- rs587784483
- ClinGen CA213256
- ClinVar RCV000147798
- ClinVar RCV000494633
- Pathogenic/Likely pathogenic
- not provided; Lissencephaly due to TUBA1A mutation; Autosomal recessive limb-gir
- 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: Pathogenic/Likely pathogenic (not provided; Lissencephaly due to TUBA1A mutation; Autosomal re)
- EBI: Pathogenic (in LIS3)
- UniProt: Pathogenic (in LIS3)
- Structural context available
- Cited in: Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A… (PMID 17584854)
- Cited in: Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. (PMID 25818041)