N123Y (p.Asn123Tyr) variant of SMC3 (Q9UQE7)
N123Y (p.Asn123Tyr) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 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.
N123Y (p.Asn123Tyr) variant details
- p.Asn123Tyr
- rs1554882313
- ClinGen CA378373735
- ClinVar RCV000623304
- Ensembl rs1554882313
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.57
- MetaSVM 0.32
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)