E45K (p.Glu45Lys) variant of TPO (Thyroid peroxidase)
E45K (p.Glu45Lys) in TPO (Thyroid peroxidase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- rs1558265699
- NCI-TCGA Cosmic COSV6110
- cosmic curated COSV61102
- Ensembl rs1558265699
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- AlphaMissense 0.14
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 0.05
- SIFT 0.12
- EVE 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available