A5T (p.Ala5Thr) variant of TPO (Thyroid peroxidase)
A5T (p.Ala5Thr) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- rs369441749
- cosmic curated COSV61098
- ESP rs369441749
- ExAC rs369441749
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.11
- MetaLR 0.18
- MetaSVM -0.91
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available