R402L (p.Arg402Leu) variant of TUBA1A (Tubulin alpha-1A chain)
R402L (p.Arg402Leu) 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 Lissencephaly due to TUBA1A mutation; Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
R402L (p.Arg402Leu) variant details
- p.Arg402Leu
- rs137853044
- ClinGen CA213258
- ClinVar RCV000147799
- ClinVar RCV000767409
- Pathogenic
- Lissencephaly due to TUBA1A mutation; Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- AlphaMissense 1.00
- MetaLR 0.62
- MetaSVM 0.17
- PolyPhen-2 0.14
- SIFT 0.00
- MutPred 0.89
- ClinVar: Pathogenic (Lissencephaly due to TUBA1A mutation; Tubulinopathy)
- EBI: Pathogenic (in LIS3)
- UniProt: Pathogenic (in LIS3)
- Structural context available
- Cited in: Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. (PMID 25818041)
- Cited in: Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A… (PMID 17584854)