Q8E (p.Gln8Glu) variant of TSHR (Thyrotropin receptor)
Q8E (p.Gln8Glu) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q8E (p.Gln8Glu) variant details
- p.Gln8Glu
- gnomAD 14-80955702-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.20
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.53
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available