R214L (p.Arg214Leu) variant of TUBA1A (Tubulin alpha-1A chain)
R214L (p.Arg214Leu) 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 not provided; Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
R214L (p.Arg214Leu) variant details
- p.Arg214Leu
- rs1057517843
- ClinGen CA384641110
- ClinVar RCV000497556
- ClinVar RCV000767506
- Pathogenic/Likely pathogenic
- not provided; Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.77
- MetaLR 0.40
- MetaSVM -0.31
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.51
- ClinVar: Pathogenic/Likely pathogenic (not provided; Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)