R2K (p.Arg2Lys) variant of TSHR (Thyrotropin receptor)
R2K (p.Arg2Lys) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R2K (p.Arg2Lys) variant details
- p.Arg2Lys
- TOPMed rs939356195
- gnomAD rs939356195
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.16
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available