T126N (p.Thr126Asn) variant of CDH2 (Cadherin-2)
T126N (p.Thr126Asn) in CDH2 (Cadherin-2) 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 0.34 / 1. The record also includes published literature and structural context.
T126N (p.Thr126Asn) variant details
- p.Thr126Asn
- rs770426519
- ClinGen CA402244123
- ClinVar RCV003288536
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.07
- MetaLR 0.17
- MetaSVM -0.94
- PolyPhen-2 0.11
- SIFT 0.19
- MutPred 0.33
- 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)