Y772C (p.Tyr772Cys) variant of TPO (Thyroid peroxidase)
Y772C (p.Tyr772Cys) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of iodide peroxidase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
Y772C (p.Tyr772Cys) variant details
- p.Tyr772Cys
- rs1382787497
- ClinGen CA345699492
- ClinVar RCV001257080
- gnomAD rs1382787497
- Likely pathogenic
- Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- AlphaMissense 0.46
- MetaLR 0.75
- MetaSVM 0.15
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.87
- ClinVar: Likely pathogenic (Deficiency of iodide peroxidase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available