R64W (p.Arg64Trp) variant of TUBA1A (Tubulin alpha-1A chain)
R64W (p.Arg64Trp) 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 Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
R64W (p.Arg64Trp) variant details
- p.Arg64Trp
- rs1064794568
- ClinGen CA16619551
- ClinVar RCV000486860
- ClinVar RCV000767424
- Pathogenic/Likely pathogenic
- Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.74
- PolyPhen-2 0.87
- SIFT 0.00
- MutPred 0.69
- ClinVar: Pathogenic/Likely pathogenic (Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provide)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)