Y161D (p.Tyr161Asp) variant of TUBA1A (Tubulin alpha-1A chain)
Y161D (p.Tyr161Asp) 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 Tubulinopathy; Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
Y161D (p.Tyr161Asp) variant details
- p.Tyr161Asp
- rs587784488
- ClinGen CA213269
- ClinVar RCV000147810
- ClinVar RCV000767508
- Pathogenic/Likely pathogenic
- Tubulinopathy; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.96
- MetaLR 0.79
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.81
- ClinVar: Pathogenic/Likely pathogenic (Tubulinopathy; Lissencephaly due to TUBA1A mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)