R422C (p.Arg422Cys) variant of TUBA1A (Tubulin alpha-1A chain)
R422C (p.Arg422Cys) 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; Tubulinopathy; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
R422C (p.Arg422Cys) variant details
- p.Arg422Cys
- rs137853049
- ClinGen CA213164
- cosmic curated COSV55497
- ClinVar RCV000007492
- Pathogenic/Likely pathogenic
- not provided; Tubulinopathy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.85
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.68
- ClinVar: Pathogenic/Likely pathogenic (not provided; Tubulinopathy; Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. (PMID 18728072)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)