E30D (p.Glu30Asp) variant of TSHR (Thyrotropin receptor)
E30D (p.Glu30Asp) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- cosmic curated COSV99991
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.15
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available