D36H (p.Asp36His) variant of TSHR (Thyrotropin receptor)
D36H (p.Asp36His) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D36H (p.Asp36His) variant details
- p.Asp36His
- rs61747482
- ClinGen CA118191
- cosmic curated COSV99035
- ClinVar RCV000122245
- Benign/Likely benign
- not specified; not provided; Familial hyperthyroidism due to mutations in TSH re
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.28
- CADD 23.70
- PolyPhen-2 0.94
- SIFT 0.19
- ClinVar: Benign/Likely benign (not specified; not provided; Familial hyperthyroidism due to mut)
- EBI: Benign (in a patient with Graves disease)
- UniProt: Benign (in a patient with Graves disease)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Analysis of mutations in exon 1 of the human thyrotropin receptor gene: high frequency of the D36H and P52T polymorphic… (PMID 10037069)
- Cited in: Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy… (PMID 12788902)