P359L (p.Pro359Leu) variant of TUBA1A (Tubulin alpha-1A chain)
P359L (p.Pro359Leu) 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 0.83 / 1. The record also includes published literature and structural context.
P359L (p.Pro359Leu) variant details
- p.Pro359Leu
- rs1085307724
- ClinGen CA384636262
- ClinVar RCV000488951
- ClinVar RCV000767445
- Pathogenic/Likely pathogenic
- Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- AlphaMissense 0.89
- MetaLR 0.81
- MetaSVM 0.88
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.63
- ClinVar: Pathogenic/Likely pathogenic (Tubulinopathy; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)