R264C (p.Arg264Cys) variant of TUBA1A (Tubulin alpha-1A chain)
R264C (p.Arg264Cys) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tubulinopathy; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R264C (p.Arg264Cys) variant details
- p.Arg264Cys
- rs137853043
- ClinGen CA213152
- ClinVar RCV000007486
- ClinVar RCV000622693
- Pathogenic
- Tubulinopathy; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.77
- ClinVar: Pathogenic (Tubulinopathy; Inborn genetic diseases; not provided)
- EBI: Pathogenic (in LIS3)
- UniProt: Pathogenic (in LIS3)
- Structural context available
- Cited in: Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. (PMID 17218254)
- Cited in: Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A… (PMID 17584854)