R46C (p.Arg46Cys) variant of TSHR (Thyrotropin receptor)
R46C (p.Arg46Cys) 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 0.47 / 1. The record also includes population frequency data and structural context.
R46C (p.Arg46Cys) variant details
- p.Arg46Cys
- rs1276734165
- NCI-TCGA Cosmic COSV5332
- cosmic curated COSV53322
- TOPMed rs1276734165
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.39
- CADD 19.20
- PolyPhen-2 0.40
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available