S54L (p.Ser54Leu) variant of THRB (Thyroid hormone receptor beta)
S54L (p.Ser54Leu) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S54L (p.Ser54Leu) variant details
- p.Ser54Leu
- rs141731067
- ClinGen CA2287426
- cosmic curated COSV62843
- ClinVar RCV001403729
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- 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)