D127N (p.Asp127Asn) variant of TUBA1A (Tubulin alpha-1A chain)
D127N (p.Asp127Asn) 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 0.51 / 1. The record also includes published literature and structural context.
D127N (p.Asp127Asn) variant details
- p.Asp127Asn
- rs1085308005
- ClinGen CA384642902
- cosmic curated COSV55498
- ClinVar RCV000489384
- Pathogenic/Likely pathogenic
- not provided; Tubulinopathy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- AlphaMissense 0.90
- MetaLR 0.51
- MetaSVM 0.14
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.63
- ClinVar: Pathogenic/Likely pathogenic (not provided; 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)