A53T (p.Ala53Thr) variant of TPO (Thyroid peroxidase)
A53T (p.Ala53Thr) in TPO (Thyroid peroxidase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in TDH2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A53T (p.Ala53Thr) variant details
- p.Ala53Thr
- rs199694732
- NCI-TCGA Cosmic COSV6110
- cosmic curated COSV61101
- TOPMed rs199694732
- Variant assessed as somatic; moderate impact.
- in TDH2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- AlphaMissense 0.18
- MetaLR 0.27
- MetaSVM -0.74
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.34
- UniProt: Variant assessed as somatic; moderate impact. (in TDH2A)
- Population evidence available
- Structural context available