L73P (p.Leu73Pro) variant of TPO (Thyroid peroxidase)
L73P (p.Leu73Pro) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
L73P (p.Leu73Pro) variant details
- p.Leu73Pro
- rs1478800617
- ClinGen CA345729486
- ClinVar RCV003141135
- TOPMed rs1478800617
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.77
- MetaLR 0.43
- MetaSVM -0.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available