I216T (p.Ile216Thr) variant of TSHR (Thyrotropin receptor)
I216T (p.Ile216Thr) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar 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 0.76 / 1. The record also includes population frequency data and structural context.
I216T (p.Ile216Thr) variant details
- p.Ile216Thr
- cosmic curated COSV99991
- ExAC rs771936985
- TOPMed rs771936985
- gnomAD rs771936985
- Likely pathogenic
- Hypothyroidism due to TSH receptor mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.86
- CADD 25.70
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypothyroidism due to TSH receptor mutations)
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available