G416S (p.Gly416Ser) variant of TUBA1A (Tubulin alpha-1A chain)
G416S (p.Gly416Ser) 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 TUBA1A-associated tubulinopathy; Tubulinopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
G416S (p.Gly416Ser) variant details
- p.Gly416Ser
- rs1057521986
- ClinGen CA16607311
- ClinVar RCV000417564
- ClinVar RCV000767501
- Pathogenic/Likely pathogenic
- TUBA1A-associated tubulinopathy; Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.99
- MetaLR 0.68
- MetaSVM 0.30
- PolyPhen-2 0.09
- SIFT 0.00
- MutPred 0.47
- ClinVar: Pathogenic/Likely pathogenic (TUBA1A-associated tubulinopathy; Tubulinopathy; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)