T56I (p.Thr56Ile) variant of TSHR (Thyrotropin receptor)
T56I (p.Thr56Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T56I (p.Thr56Ile) variant details
- p.Thr56Ile
- rs781625203
- ClinGen CA7293998
- ClinVar RCV001758481
- ExAC rs781625203
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.41
- CADD 17.80
- PolyPhen-2 0.13
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available