T10N (p.Thr10Asn) variant of CDH2 (Cadherin-2)
T10N (p.Thr10Asn) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T10N (p.Thr10Asn) variant details
- p.Thr10Asn
- rs773400550
- ClinGen CA8923863
- ClinVar RCV002622553
- ClinVar RCV005535372
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.14
- MetaLR 0.07
- MetaSVM -1.05
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.60
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00077)
- 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)