D18N (p.Asp18Asn) variant of TSHR (Thyrotropin receptor)
D18N (p.Asp18Asn) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- ExAC rs758625628
- gnomAD rs758625628
- Missense
- Variant Prioritization Score for Impact Estimate 0.0794
- REVEL 0.07
- CADD 5.17
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available