R46H (p.Arg46His) variant of TSHR (Thyrotropin receptor)
R46H (p.Arg46His) 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 0.36 / 1. The record also includes population frequency data and structural context.
R46H (p.Arg46His) variant details
- p.Arg46His
- NCI-TCGA Cosmic COSV5332
- cosmic curated COSV53324
- Ensembl rs2139669985
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.14
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available