S6C (p.Ser6Cys) variant of TUBA1A (Tubulin alpha-1A chain)
S6C (p.Ser6Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- rs1057520574
- ClinGen CA16606562
- ClinVar RCV000423889
- ClinVar RCV000767454
- Pathogenic/Likely pathogenic
- Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 0.50
- MetaLR 0.62
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.55
- ClinVar: Pathogenic/Likely pathogenic (Tubulinopathy; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)