P162A (p.Pro162Ala) variant of TSHR (Thyrotropin receptor)
P162A (p.Pro162Ala) 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 Familial hyperthyroidism due to mutations in TSH receptor; Familial gestational. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P162A (p.Pro162Ala) variant details
- p.Pro162Ala
- rs121908863
- ClinGen CA118206
- ClinVar RCV000006805
- ClinVar RCV001815162
- Pathogenic/Likely pathogenic
- Familial hyperthyroidism due to mutations in TSH receptor; Familial gestational
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.46
- CADD 19.10
- PolyPhen-2 0.14
- SIFT 0.25
- ClinVar: Pathogenic/Likely pathogenic (Familial hyperthyroidism due to mutations in TSH receptor; Famil)
- EBI: Pathogenic (in CHNG1)
- UniProt: Pathogenic (in CHNG1)
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. (PMID 12050212)
- Cited in: Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune… (PMID 15531543)