G20D (p.Gly20Asp) variant of TSHR (Thyrotropin receptor)
G20D (p.Gly20Asp) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- Ensembl rs2139669485
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.19
- CADD 13.80
- PolyPhen-2 0.08
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available