R72Q (p.Arg72Gln) variant of PAX8 (Paired box protein Pax-8)
R72Q (p.Arg72Gln) in PAX8 (Paired box protein Pax-8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hypothyroidism, congenital, nongoitrous, 2; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R72Q (p.Arg72Gln) variant details
- p.Arg72Gln
- rs769138605
- ClinGen CA1840301
- cosmic curated COSV54508
- ClinVar RCV000986802
- Likely benign
- Hypothyroidism, congenital, nongoitrous, 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.73
- CADD 23.80
- PolyPhen-2 0.29
- SIFT 0.04
- ClinVar: Likely benign (Hypothyroidism, congenital, nongoitrous, 2; Inborn genetic disea)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)