R32C (p.Arg32Cys) variant of TG (Thyroglobulin)
R32C (p.Arg32Cys) 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 0.55 / 1. The record also includes population frequency data and structural context.
R32C (p.Arg32Cys) variant details
- p.Arg32Cys
- rs371315184
- ClinGen CA4882789
- ClinVar RCV001161224
- 1000Genomes rs371315184
- Uncertain significance
- Iodotyrosyl coupling defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.40
- MetaLR 0.47
- MetaSVM 0.02
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Iodotyrosyl coupling defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MONGOLIAN population (allele frequency 0.05)
- Structural context available