S54N (p.Ser54Asn) variant of TUBA1A (Tubulin alpha-1A chain)
S54N (p.Ser54Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
S54N (p.Ser54Asn) variant details
- p.Ser54Asn
- rs1565627740
- ClinGen CA384645031
- ClinVar RCV000767484
- Ensembl rs1565627740
- Pathogenic
- Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.40
- MetaLR 0.61
- MetaSVM -0.03
- PolyPhen-2 0.00
- SIFT 0.04
- MutPred 0.48
- ClinVar: Pathogenic (Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)