H107R (p.His107Arg) variant of TUBA1A (Tubulin alpha-1A chain)
H107R (p.His107Arg) 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.
H107R (p.His107Arg) variant details
- p.His107Arg
- rs1565627517
- ClinGen CA384643267
- ClinVar RCV000767489
- Ensembl rs1565627517
- Pathogenic
- Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- AlphaMissense 0.94
- MetaLR 0.50
- MetaSVM 0.29
- PolyPhen-2 0.02
- SIFT 0.00
- MutPred 0.70
- ClinVar: Pathogenic (Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)