E30G (p.Glu30Gly) variant of TSHR (Thyrotropin receptor)
E30G (p.Glu30Gly) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E30G (p.Glu30Gly) variant details
- p.Glu30Gly
- gnomAD 14-80955769-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.36
- CADD 24.00
- PolyPhen-2 0.84
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available