D43Y (p.Asp43Tyr) variant of TSHR (Thyrotropin receptor)
D43Y (p.Asp43Tyr) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D43Y (p.Asp43Tyr) variant details
- p.Asp43Tyr
- gnomAD 14-80955807-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.48
- CADD 28.30
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available