E30E (p.Glu30Glu) variant of TSHR (Thyrotropin receptor)
E30E (p.Glu30Glu) in TSHR (Thyrotropin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E30E (p.Glu30Glu) variant details
- p.Glu30Glu
- rs1198068309
- gnomAD 14-80955770-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 10.10
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available