A553T (p.Ala553Thr) variant of TSHR (Thyrotropin receptor)
A553T (p.Ala553Thr) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Hypothyroidism due to TSH receptor mutations; Familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
A553T (p.Ala553Thr) variant details
- p.Ala553Thr
- rs121908872
- ClinGen CA118236
- cosmic curated COSV53321
- ClinVar RCV000006815
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Hypothyroidism due to TSH receptor mutations; Familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.61
- CADD 27.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Hypothyroidism due to TSH receptor muta)
- EBI: Pathogenic (in CHNG1)
- UniProt: Pathogenic (in CHNG1)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia… (PMID 9185526)
- Cited in: Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with… (PMID 14725684)