C2264Y (p.Cys2264Tyr) variant of TG (Thyroglobulin)
C2264Y (p.Cys2264Tyr) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Iodotyrosyl coupling defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
C2264Y (p.Cys2264Tyr) variant details
- p.Cys2264Tyr
- rs1229345000
- ClinGen CA372234223
- cosmic curated COSV55101
- ClinVar RCV001175129
- Likely pathogenic
- Iodotyrosyl coupling defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.89
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Iodotyrosyl coupling defect)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00039)
- Structural context available