Q8H (p.Gln8His) variant of TSHR (Thyrotropin receptor)
Q8H (p.Gln8His) in TSHR (Thyrotropin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q8H (p.Gln8His) variant details
- p.Gln8His
- rs773584994
- gnomAD 14-80955699-C-CTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available