T40I (p.Thr40Ile) variant of TSHR (Thyrotropin receptor)
T40I (p.Thr40Ile) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
T40I (p.Thr40Ile) variant details
- p.Thr40Ile
- ExAC rs773044895
- TOPMed rs773044895
- gnomAD rs773044895
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.56
- CADD 24.10
- PolyPhen-2 0.71
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available