G436D (p.Gly436Asp) variant of TUBA1A (Tubulin alpha-1A chain)
G436D (p.Gly436Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
G436D (p.Gly436Asp) variant details
- p.Gly436Asp
- rs1565626851
- ClinGen CA384633226
- ClinVar RCV000767491
- ClinVar RCV001843549
- Pathogenic/Likely pathogenic
- TUBA1A-associated tubulinopathy; Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- AlphaMissense 0.99
- MetaLR 0.71
- MetaSVM 0.53
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.27
- ClinVar: Pathogenic/Likely pathogenic (TUBA1A-associated tubulinopathy; Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)