G366R (p.Gly366Arg) variant of TUBA1A (Tubulin alpha-1A chain)
G366R (p.Gly366Arg) 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 not provided; Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
G366R (p.Gly366Arg) variant details
- p.Gly366Arg
- rs1555162299
- ClinGen CA384636084
- ClinVar RCV000522300
- ClinVar RCV000767417
- Pathogenic/Likely pathogenic
- not provided; Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.69
- PolyPhen-2 0.43
- SIFT 0.00
- MutPred 0.66
- ClinVar: Pathogenic/Likely pathogenic (not provided; Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)