P72R (p.Pro72Arg) variant of TUBA1A (Tubulin alpha-1A chain)
P72R (p.Pro72Arg) 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 0.77 / 1. The record also includes published literature and structural context.
P72R (p.Pro72Arg) variant details
- p.Pro72Arg
- rs1565627677
- ClinGen CA384644679
- ClinVar RCV000767499
- Ensembl rs1565627677
- Pathogenic
- Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- AlphaMissense 0.97
- MetaLR 0.71
- MetaSVM 0.71
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.72
- ClinVar: Pathogenic (Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)