S54R (p.Ser54Arg) variant of TUBA1A (Tubulin alpha-1A chain)
S54R (p.Ser54Arg) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tubulinopathy; Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
S54R (p.Ser54Arg) variant details
- p.Ser54Arg
- rs587784486
- ClinGen CA213264
- ClinVar RCV000147802
- ClinVar RCV000767515
- Likely pathogenic
- Tubulinopathy; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- AlphaMissense 0.98
- MetaLR 0.72
- MetaSVM 0.23
- PolyPhen-2 0.02
- SIFT 0.00
- MutPred 0.52
- ClinVar: Likely pathogenic (Tubulinopathy; Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)