N329S (p.Asn329Ser) variant of TUBA1A (Tubulin alpha-1A chain)
N329S (p.Asn329Ser) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tubulinopathy; Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
N329S (p.Asn329Ser) variant details
- p.Asn329Ser
- rs587784495
- ClinGen CA213285
- ClinVar RCV000147821
- ClinVar RCV000767474
- Pathogenic
- Tubulinopathy; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.30
- MetaLR 0.42
- MetaSVM -0.29
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.68
- ClinVar: Pathogenic (Tubulinopathy; Lissencephaly due to TUBA1A mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)