P72S (p.Pro72Ser) variant of TUBA1A (Tubulin alpha-1A chain)
P72S (p.Pro72Ser) 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.
P72S (p.Pro72Ser) variant details
- p.Pro72Ser
- rs1565627680
- ClinGen CA384644689
- ClinVar RCV000767495
- Ensembl rs1565627680
- Pathogenic
- Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.77
- MetaLR 0.52
- MetaSVM 0.03
- PolyPhen-2 0.16
- SIFT 0.01
- MutPred 0.66
- ClinVar: Pathogenic (Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)