A3V (p.Ala3Val) variant of TPO (Thyroid peroxidase)
A3V (p.Ala3Val) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs151268825
- ClinGen CA1511258
- cosmic curated COSV61101
- ClinVar RCV000936416
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- AlphaMissense 0.10
- MetaLR 0.12
- MetaSVM -0.99
- PolyPhen-2 0.02
- SIFT 0.22
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available