Y272C (p.Tyr272Cys) variant of TUBA1A (Tubulin alpha-1A chain)
Y272C (p.Tyr272Cys) 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 0.79 / 1. The record also includes published literature and structural context.
Y272C (p.Tyr272Cys) variant details
- p.Tyr272Cys
- rs1064795417
- ClinGen CA16619549
- ClinVar RCV000486639
- ClinVar RCV000767450
- Likely pathogenic
- Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- AlphaMissense 0.83
- MetaLR 0.75
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.67
- ClinVar: Likely pathogenic (Tubulinopathy; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)