T145I (p.Thr145Ile) variant of TSHR (Thyrotropin receptor)
T145I (p.Thr145Ile) 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 0.69 / 1. The record also includes population frequency data and structural context.
T145I (p.Thr145Ile) variant details
- p.Thr145Ile
- ExAC rs756651633
- gnomAD rs756651633
- Likely pathogenic
- Hypothyroidism due to TSH receptor mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.70
- CADD 24.50
- PolyPhen-2 0.85
- SIFT 0.04
- ClinVar: Likely pathogenic (Hypothyroidism due to TSH receptor mutations)
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00014)
- Structural context available