I44M (p.Ile44Met) variant of TSHR (Thyrotropin receptor)
I44M (p.Ile44Met) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I44M (p.Ile44Met) variant details
- p.Ile44Met
- rs984401719
- gnomAD rs984401719
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.18
- CADD 11.80
- PolyPhen-2 0.15
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available