P70A (p.Pro70Ala) variant of TPO (Thyroid peroxidase)
P70A (p.Pro70Ala) 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; Deficiency of iodide peroxidase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P70A (p.Pro70Ala) variant details
- p.Pro70Ala
- rs17855780
- ClinGen CA1511360
- ClinVar RCV001131120
- ClinVar RCV001760093
- Uncertain significance
- not provided; Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- AlphaMissense 0.24
- MetaLR 0.35
- MetaSVM -0.51
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.25
- ClinVar: Uncertain significance (not provided; Deficiency of iodide peroxidase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available