G95C (p.Gly95Cys) variant of TUBA1A (Tubulin alpha-1A chain)
G95C (p.Gly95Cys) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tubulinopathy; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
G95C (p.Gly95Cys) variant details
- p.Gly95Cys
- rs1555162486
- ClinGen CA384643482
- ClinVar RCV000623886
- ClinVar RCV000767498
- Pathogenic
- Tubulinopathy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- AlphaMissense 0.96
- MetaLR 0.64
- MetaSVM 0.63
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.76
- ClinVar: Pathogenic (Tubulinopathy; Inborn genetic diseases)
- 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)