S419L (p.Ser419Leu) variant of TUBA1A (Tubulin alpha-1A chain)
S419L (p.Ser419Leu) 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 0.53 / 1. The record also includes published literature and structural context.
S419L (p.Ser419Leu) variant details
- p.Ser419Leu
- rs137853047
- ClinGen CA213160
- ClinVar RCV000007490
- ClinVar RCV000767406
- Pathogenic/Likely pathogenic
- Tubulinopathy; not provided; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- AlphaMissense 0.72
- MetaLR 0.56
- MetaSVM -0.03
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.69
- ClinVar: Pathogenic/Likely pathogenic (Tubulinopathy; not provided; Lissencephaly due to TUBA1A mutatio)
- 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: Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly… (PMID 20603323)