D43H (p.Asp43His) variant of TSHR (Thyrotropin receptor)
D43H (p.Asp43His) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D43H (p.Asp43His) variant details
- p.Asp43His
- gnomAD rs1886638900
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.36
- CADD 27.30
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available