D18E (p.Asp18Glu) variant of TSHR (Thyrotropin receptor)
D18E (p.Asp18Glu) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
D18E (p.Asp18Glu) variant details
- p.Asp18Glu
- Ensembl rs2139669436
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.14
- CADD 8.79
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available