L79C (p.Leu79Cys) variant of TPO (Thyroid peroxidase)
L79C (p.Leu79Cys) in TPO (Thyroid peroxidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
L79C (p.Leu79Cys) variant details
- p.Leu79Cys
- gnomAD 3-184373540-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 23.40
- Population evidence available
- Literature evidence available