D66N (p.Asp66Asn) variant of TG (Thyroglobulin)
D66N (p.Asp66Asn) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar 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 0.14 / 1. The record also includes population frequency data and structural context.
D66N (p.Asp66Asn) variant details
- p.Asp66Asn
- rs1245830644
- NCI-TCGA Cosmic COSV5506
- TOPMed rs1245830644
- gnomAD rs1245830644
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -1.03
- CADD 10.40
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available