T477I (p.Thr477Ile) variant of TSHR (Thyrotropin receptor)
T477I (p.Thr477Ile) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypothyroidism due to TSH receptor mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T477I (p.Thr477Ile) variant details
- p.Thr477Ile
- rs121908881
- ClinGen CA118263
- ClinVar RCV000006826
- gnomAD rs121908881
- Likely pathogenic
- Hypothyroidism due to TSH receptor mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.89
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypothyroidism due to TSH receptor mutations)
- EBI: Pathogenic (in CHNG1)
- UniProt: Pathogenic (in CHNG1)
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Cited in: Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin… (PMID 10720030)
- Cited in: A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor… (PMID 11095460)