D240G (p.Asp240Gly) variant of TPO (Thyroid peroxidase)
D240G (p.Asp240Gly) 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 0.90 / 1. The record also includes structural context.
D240G (p.Asp240Gly) variant details
- p.Asp240Gly
- rs1667768234
- ClinGen CA345693117
- ClinVar RCV001257078
- Ensembl rs1667768234
- Likely pathogenic
- Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.92
- MetaLR 0.82
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Deficiency of iodide peroxidase)
- EBI: Likely pathogenic (in TDH2A)
- UniProt: Likely pathogenic (in TDH2A)
- Structural context available