M1I (p.Met1Ile) variant of TG (Thyroglobulin)
M1I (p.Met1Ile) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Iodotyrosyl coupling defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2132013784
- ClinGen CA372243968
- ClinVar RCV001808184
- Uncertain significance
- Iodotyrosyl coupling defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- MetaLR 0.17
- MetaSVM -0.75
- PolyPhen-2 0.13
- SIFT 0.00
- MutPred 0.90
- ClinVar: Uncertain significance (Iodotyrosyl coupling defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available