P307S (p.Pro307Ser) variant of TUBA1A (Tubulin alpha-1A chain)
P307S (p.Pro307Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
P307S (p.Pro307Ser) variant details
- p.Pro307Ser
- rs1555162327
- ClinGen CA384638403
- ClinVar RCV000497595
- ClinVar RCV000767448
- Likely pathogenic
- Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.98
- MetaLR 0.82
- MetaSVM 0.90
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.75
- ClinVar: Likely pathogenic (Tubulinopathy; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)