A13G (p.Ala13Gly) variant of THRB (Thyroid hormone receptor beta)
A13G (p.Ala13Gly) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
A13G (p.Ala13Gly) variant details
- p.Ala13Gly
- rs886044192
- ClinGen CA10606464
- NCI-TCGA Cosmic COSV1007
- ClinVar RCV000388556
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- MetaLR 0.74
- MetaSVM 0.18
- PolyPhen-2 0.14
- SIFT 0.00
- MutPred 0.93
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available