Q72* (p.Gln72Ter) variant of TPO (Thyroid peroxidase)
Q72* (p.Gln72Ter) in TPO (Thyroid peroxidase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Q72* (p.Gln72Ter) variant details
- p.Gln72Ter
- rs200273438
- ClinGen CA1511361
- ClinVar RCV001329365
- ESP rs200273438
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.377
- AlphaMissense 0.17
- MetaLR 0.16
- MetaSVM -0.93
- PolyPhen-2 0.71
- SIFT 0.10
- EVE 0.34
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available