P52T (p.Pro52Thr) variant of TSHR (Thyrotropin receptor)
P52T (p.Pro52Thr) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Familial hyperthyroidism due to mutations in TSH re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P52T (p.Pro52Thr) variant details
- p.Pro52Thr
- rs2234919
- ClinGen CA248749
- cosmic curated COSV53318
- ClinVar RCV000122244
- Benign/Likely benign
- not specified; not provided; Familial hyperthyroidism due to mutations in TSH re
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.04
- CADD 8.62
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Benign/Likely benign (not specified; not provided; Familial hyperthyroidism due to mut)
- EBI: Benign (does not contribute to the genetic susceptibility to Graves dise)
- UniProt: Benign (does not contribute to the genetic susceptibility to Graves dise)
- Most common in the 1KG:GIH population (allele frequency 0.26)
- Structural context available
- Cited in: Analysis of the genetic variability of the 1st (CCC/ACC, P52T) and the 10th exons (bp 1012-1704) of the TSH receptor… (PMID 10651846)
- Cited in: Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy… (PMID 12788902)