D199G (p.Asp199Gly) variant of TUBA1A (Tubulin alpha-1A chain)
D199G (p.Asp199Gly) 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 0.82 / 1. The record also includes published literature and structural context.
D199G (p.Asp199Gly) variant details
- p.Asp199Gly
- rs786205479
- ClinGen CA235886
- ClinVar RCV000171214
- ClinVar RCV000767507
- Likely pathogenic
- Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 0.99
- MetaLR 0.78
- MetaSVM 0.84
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.70
- ClinVar: Likely pathogenic (Tubulinopathy; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)