R264G (p.Arg264Gly) variant of TUBA1A (Tubulin alpha-1A chain)
R264G (p.Arg264Gly) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
R264G (p.Arg264Gly) variant details
- p.Arg264Gly
- rs137853043
- ClinGen CA10588552
- ClinVar RCV000256084
- ClinVar RCV000767502
- Conflicting interpretations
- 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: Conflicting classifications of pathogenicity (Lissencephaly type 3; Tubulinopathy; not provided)
- EBI: Pathogenic (in LIS3)
- UniProt: Pathogenic (in LIS3)
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)