I44S (p.Ile44Ser) variant of TSHR (Thyrotropin receptor)
I44S (p.Ile44Ser) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
I44S (p.Ile44Ser) variant details
- p.Ile44Ser
- TOPMed rs1886639507
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.50
- CADD 24.60
- PolyPhen-2 0.86
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available