S131P (p.Ser131Pro) variant of TPO (Thyroid peroxidase)
S131P (p.Ser131Pro) 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 0.46 / 1. The record also includes population frequency data.
S131P (p.Ser131Pro) variant details
- p.Ser131Pro
- rs201800220
- ClinGen CA1511411
- ClinVar RCV001376081
- ESP rs201800220
- Likely pathogenic
- Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- AlphaMissense 0.83
- MetaLR 0.34
- MetaSVM -0.38
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Likely pathogenic (Deficiency of iodide peroxidase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available