S53R (p.Ser53Arg) variant of TSHR (Thyrotropin receptor)
S53R (p.Ser53Arg) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypothyroidism due to TSH receptor mutations; Familial hyperthyroidism due to mu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S53R (p.Ser53Arg) variant details
- p.Ser53Arg
- Ensembl rs2139670141
- Uncertain significance
- Hypothyroidism due to TSH receptor mutations; Familial hyperthyroidism due to mu
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.06
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Hypothyroidism due to TSH receptor mutations; Familial hyperthyr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available