T85S (p.Thr85Ser) variant of THRB (Thyroid hormone receptor beta)
T85S (p.Thr85Ser) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T85S (p.Thr85Ser) variant details
- p.Thr85Ser
- rs61756233
- ClinGen CA2287403
- ClinVar RCV003292075
- ExAC rs61756233
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 12.90
- PolyPhen-2 0.01
- SIFT 0.92
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)