I122V (p.Ile122Val) variant of THRB (Thyroid hormone receptor beta)
I122V (p.Ile122Val) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
I122V (p.Ile122Val) variant details
- p.Ile122Val
- rs2149103720
- ClinGen CA351885954
- cosmic curated COSV54981
- ClinVar RCV001532477
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- AlphaMissense 0.80
- MetaLR 0.90
- MetaSVM 0.90
- PolyPhen-2 0.98
- SIFT 0.04
- EVE 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available