H28Y (p.His28Tyr) variant of TUBA1A (Tubulin alpha-1A chain)
H28Y (p.His28Tyr) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Lissencephaly due to TUBA1A mutation; 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.
H28Y (p.His28Tyr) variant details
- p.His28Tyr
- rs1555162549
- ClinGen CA384645701
- ClinVar RCV000498733
- ClinVar RCV000767452
- Conflicting interpretations
- Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- AlphaMissense 0.99
- MetaLR 0.73
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.73
- ClinVar: Conflicting classifications of pathogenicity (Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provide)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)