M22T (p.Met22Thr) variant of TSHR (Thyrotropin receptor)
M22T (p.Met22Thr) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
M22T (p.Met22Thr) variant details
- p.Met22Thr
- 1000Genomes rs562487889
- ExAC rs562487889
- TOPMed rs562487889
- gnomAD rs562487889
- Missense
- Variant Prioritization Score for Impact Estimate 0.075
- REVEL 0.06
- CADD 2.54
- PolyPhen-2 0.01
- SIFT 0.45
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available