R123H (p.Arg123His) variant of TUBA1A (Tubulin alpha-1A chain)
R123H (p.Arg123His) 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; Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
R123H (p.Arg123His) variant details
- p.Arg123His
- rs1555162456
- ClinGen CA384643005
- cosmic curated COSV55498
- ClinVar RCV000504134
- Pathogenic/Likely pathogenic
- Tubulinopathy; not provided; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- AlphaMissense 0.12
- MetaLR 0.48
- MetaSVM 0.05
- SIFT 0.05
- MutPred 0.37
- ClinVar: Pathogenic/Likely pathogenic (Tubulinopathy; not provided; Lissencephaly due to TUBA1A mutatio)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)