L92V (p.Leu92Val) variant of TUBA1A (Tubulin alpha-1A chain)
L92V (p.Leu92Val) 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 0.54 / 1. The record also includes published literature and structural context.
L92V (p.Leu92Val) variant details
- p.Leu92Val
- rs1565627548
- ClinGen CA384643534
- ClinVar RCV000767432
- Ensembl rs1565627548
- Pathogenic
- Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 0.57
- MetaLR 0.47
- MetaSVM 0.24
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.65
- ClinVar: Pathogenic (Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)