D47H (p.Asp47His) variant of TUBA1A (Tubulin alpha-1A chain)
D47H (p.Asp47His) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tubulinopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
D47H (p.Asp47His) variant details
- p.Asp47His
- rs1555162536
- ClinGen CA384645222
- ClinVar RCV000498855
- ClinVar RCV000767517
- Likely pathogenic
- Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- AlphaMissense 0.95
- MetaLR 0.80
- MetaSVM 0.59
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.52
- ClinVar: Likely pathogenic (Tubulinopathy; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)