Q62K (p.Gln62Lys) variant of TG (Thyroglobulin)
Q62K (p.Gln62Lys) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TG-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
Q62K (p.Gln62Lys) variant details
- p.Gln62Lys
- rs1839300540
- ClinGen CA372245824
- ClinVar RCV004555652
- Ensembl rs1839300540
- Uncertain significance
- TG-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- AlphaMissense 0.71
- MetaLR 0.76
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Uncertain significance (TG-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available