C29W (p.Cys29Trp) variant of TSHR (Thyrotropin receptor)
C29W (p.Cys29Trp) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
C29W (p.Cys29Trp) variant details
- p.Cys29Trp
- rs777166186
- ClinGen CA7293984
- ClinVar RCV002988107
- ClinVar RCV003491298
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.58
- CADD 21.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00096)
- 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)