A383V (p.Ala383Val) variant of TUBA1A (Tubulin alpha-1A chain)
A383V (p.Ala383Val) 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 0.84 / 1. The record also includes published literature and structural context.
A383V (p.Ala383Val) variant details
- p.Ala383Val
- rs587784482
- ClinGen CA210184
- ClinVar RCV000147795
- ClinVar RCV000201372
- Pathogenic/Likely pathogenic
- Tubulinopathy; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.92
- PolyPhen-2 0.70
- SIFT 0.00
- MutPred 0.69
- ClinVar: Pathogenic/Likely pathogenic (Tubulinopathy; Lissencephaly due to TUBA1A mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)