R123C (p.Arg123Cys) variant of TUBA1A (Tubulin alpha-1A chain)
R123C (p.Arg123Cys) 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 Inborn genetic diseases; Tubulinopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
R123C (p.Arg123Cys) variant details
- p.Arg123Cys
- rs886039513
- ClinGen CA10588553
- NCI-TCGA Cosmic COSV5549
- cosmic curated COSV55497
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- AlphaMissense 0.89
- MetaLR 0.68
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.79
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Tubulinopathy; 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)