E34K (p.Glu34Lys) variant of TSHR (Thyrotropin receptor)
E34K (p.Glu34Lys) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified; Hypothyroidism due to TSH receptor mutat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- rs45499704
- ClinGen CA7293987
- ClinVar RCV001118136
- ClinVar RCV001118137
- Conflicting interpretations
- Inborn genetic diseases; not specified; Hypothyroidism due to TSH receptor mutat
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.39
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.92
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; Hypothyroidism due to TS)
- EBI: Benign (in dbSNP:rs45499704)
- UniProt: Benign (in dbSNP:rs45499704)
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- 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)