A270S (p.Ala270Ser) variant of TUBA1A (Tubulin alpha-1A chain)
A270S (p.Ala270Ser) 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 Lissencephaly due to TUBA1A mutation; Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
A270S (p.Ala270Ser) variant details
- p.Ala270Ser
- rs587784494
- ClinGen CA213279
- ClinVar RCV000147818
- ClinVar RCV000767426
- Pathogenic/Likely pathogenic
- Lissencephaly due to TUBA1A mutation; Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.26
- MetaLR 0.33
- MetaSVM -0.57
- PolyPhen-2 0.00
- SIFT 0.03
- MutPred 0.27
- ClinVar: Pathogenic/Likely pathogenic (Lissencephaly due to TUBA1A mutation; Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)