L70S (p.Leu70Ser) variant of TUBA1A (Tubulin alpha-1A chain)
L70S (p.Leu70Ser) 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 Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
L70S (p.Leu70Ser) variant details
- p.Leu70Ser
- rs1565627684
- ClinGen CA384644745
- ClinVar RCV000767415
- Ensembl rs1565627684
- Pathogenic
- Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- AlphaMissense 0.99
- MetaLR 0.63
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.69
- ClinVar: Pathogenic (Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)