Q55H (p.Gln55His) variant of TSHR (Thyrotropin receptor)
Q55H (p.Gln55His) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q55H (p.Gln55His) variant details
- p.Gln55His
- TOPMed rs1886642331
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.12
- CADD 20.20
- PolyPhen-2 0.39
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available