R79H (p.Arg79His) variant of TUBA1A (Tubulin alpha-1A chain)
R79H (p.Arg79His) 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; Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
R79H (p.Arg79His) variant details
- p.Arg79His
- rs1942181364
- ClinGen CA384643741
- cosmic curated COSV10515
- ClinVar RCV001310649
- Pathogenic/Likely pathogenic
- not provided; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- AlphaMissense 0.13
- MetaLR 0.53
- MetaSVM 0.30
- SIFT 0.00
- MutPred 0.54
- ClinVar: Pathogenic/Likely pathogenic (not provided; Lissencephaly due to TUBA1A mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)