E52G (p.Glu52Gly) variant of THRB (Thyroid hormone receptor beta)
E52G (p.Glu52Gly) in THRB (Thyroid hormone receptor beta) 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 0.57 / 1. The record also includes population frequency data and structural context.
E52G (p.Glu52Gly) variant details
- p.Glu52Gly
- rs775495128
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10072
- ExAC rs775495128
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.39
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available