P364R (p.Pro364Arg) variant of TUBA1A (Tubulin alpha-1A chain)
P364R (p.Pro364Arg) 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.
P364R (p.Pro364Arg) variant details
- p.Pro364Arg
- rs1131691349
- ClinGen CA384636153
- ClinVar RCV000493462
- ClinVar RCV000767444
- Likely pathogenic
- Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.94
- MetaLR 0.86
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.60
- ClinVar: Likely pathogenic (Tubulinopathy; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)