S24L (p.Ser24Leu) variant of TPO (Thyroid peroxidase)
S24L (p.Ser24Leu) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
S24L (p.Ser24Leu) variant details
- p.Ser24Leu
- rs781708047
- cosmic curated COSV10733
- ExAC rs781708047
- TOPMed rs781708047
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- AlphaMissense 0.09
- MetaLR 0.06
- MetaSVM -0.99
- PolyPhen-2 0.01
- SIFT 1.00
- MutPred 0.36
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available