R214H (p.Arg214His) variant of TUBA1A (Tubulin alpha-1A chain)
R214H (p.Arg214His) 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; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
R214H (p.Arg214His) variant details
- p.Arg214His
- rs1057517843
- ClinGen CA16042802
- ClinVar RCV000413283
- ClinVar RCV000496159
- Pathogenic/Likely pathogenic
- Tubulinopathy; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.77
- MetaLR 0.40
- MetaSVM -0.31
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.51
- ClinVar: Pathogenic/Likely pathogenic (Tubulinopathy; Inborn genetic diseases; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)