F289S (p.Phe289Ser) variant of TPO (Thyroid peroxidase)
F289S (p.Phe289Ser) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital hypothyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
F289S (p.Phe289Ser) variant details
- p.Phe289Ser
- rs1670028028
- ClinGen CA345693744
- ClinVar RCV001270335
- Ensembl rs1670028028
- Pathogenic
- Congenital hypothyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- AlphaMissense 0.88
- MetaLR 0.63
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic (Congenital hypothyroidism)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: acmg act sheets and algorithms (PMID 21938795)