D18Y (p.Asp18Tyr) variant of TSHR (Thyrotropin receptor)
D18Y (p.Asp18Tyr) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
D18Y (p.Asp18Tyr) variant details
- p.Asp18Tyr
- cosmic curated COSV10610
- ExAC rs758625628
- gnomAD rs758625628
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.14
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available