T40M (p.Thr40Met) variant of TG (Thyroglobulin)
T40M (p.Thr40Met) in TG (Thyroglobulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
T40M (p.Thr40Met) variant details
- p.Thr40Met
- ExAC rs539574101
- TOPMed rs539574101
- gnomAD rs539574101
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.12
- MetaLR 0.14
- MetaSVM -0.84
- CADD 0.34
- PolyPhen-2 0.37
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available