D18D (p.Asp18Asp) variant of TSHR (Thyrotropin receptor)
D18D (p.Asp18Asp) in TSHR (Thyrotropin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D18D (p.Asp18Asp) variant details
- p.Asp18Asp
- rs2139669436
- gnomAD 14-80955734-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 7.58
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available